GOSH Flashcards
What is a speculum examination
Insertion of a speculum device to facilitate the inspection of the vaginal wall and ectocervix
Evaluation of the quality of vaginal discharge to determine whether a smear should be acquired
What is the ectocervix and what type of cells make it up
Outer part of the cervix, distal to the uterine external os
The mucosal surface of the vaginal cervix.
Lined with nonkeratinized stratified squamous epithelium.
What are the signs and symptoms of pathologic discharge
Malodorous Abnormal consistence (frothy or curd like) Bloody, brown, yellow, green or gray colour
Puritic and/or erythematous vagina
Cervical tenderness
What is physiological leukorrhea
Profuse white or yellow and non-malodorous vaginal discharge can be physiological if none of the other symptoms of pathologic discharge are present
In newborns, vaginal discharge may occur due to in-utero exposure to maternal oestrogen (no treatment necessary)
What is Important about speculum exams in preadolescent patients
Nearly never indicated but if absolutely necessary (eg vaginal bleeding, trauma or abuse) it is usually done under general anaesthesia
What is a colposcope
A type of microscope used to acquire a magnified view (6-40x) of the vaginal wall or ectocervix
Can detect pracancerous and cancerous lesions with application of acetic acid or iodine
Can be used for colposcopy directed cervical smears and biopsies
Can be used in surgical procedures
What is cervical ectopy
A state in which the squamous cell epithelium of the ectocervix is replaced by columnar cell epithelium of the endocervix under the physiological influence of oestrogen (eg precnancy, certain oral contraceptives)
Can be seen on colposcopy as a sharply demarcated bright red area with papillary structures
Clinical features: mostly asymptomatic, occasional postcoital bleeding and vaginal discharge
Predisposition to chlamydial infection
Malignant transformation may occur in cases of HPV-16 and/ or HPV-18 infections
What is the transformational zone
The area between the non-keratinised squamous epithelium of the ectocervix and the columnar epithelium of the endocervix.
It is a common site for infections and dysplastic changes
What are nabothian cysts
Retention cysts that arise in the transformational zone
These have no pathological significance
What are cervical polyps
Hyperplastic cervical epithelium
Clinical features: vaginal bleeding
Malignant degeneration is rare
Treatment: surgical resection of the polyp and cauterization of the polyp’s pedicle to prevent recurrence
What are the abnormal findings on colposcopy
All require further evaluation
Condylomata acuminata: white lesions under acetic acid application
Cervical leukoplakia: white membrane that cannot be scraped off
Cervical intraepithelial neoplasia: punctate lesions or coarse mosaic pattern
Cervical cancer: atypical vessels
What is the normal finding on a vaginal smear
Cylindrical Lactobacilli (Doderlein’s bacilli)
What are the pathological findings on a vaginal smear and what is the subsequent diagnosis
Pseudomycelia and/or yeast cells: Vaginal candidiasis
Motile flagellated protozoa: Trichomoniasis
Clue cells and positive whiff test: Bacterial vaginosis
Estimate pH levels:
- Normal 4 - 4.5
- > 4.5 then suspect bacterial infections (other causes could be menstruation, amniotic fluid and sexual intercourse)
Also need to do bacterial culture and sensitivity analysis if bacterial infections due to an unknown pathogen are suspected
PCR and/or serological tests can be done for suspected chlamydial infections or HPV typing
What is involved in a Whiff test
AKA: Amine test, Hinsberg reaction
Positive if adding 1–2 drops of 10% KOH (potassium hydroxide) to vaginal fluid (on the speculum after the pelvic examination/on a microscope slide) leads to an intensification of the fishy odor.
What is the tumour marker for breast carcinoma
CA 15-3
What is the tumour marker for ovarian and/or endometrial carcinoma
CA 125
What is the tumour marker for squamous cell carcinoma (eg cervical, vulval and/ or vaginal carcinomas)
SCC
What is the tumour marker for germ cell tumours
AFP
What is the tumour marker for choriocarcinomas and or/ germ cell tumours
HCG
What is a transabdominal ultrasound used for
The easiest menthof of assessing the uterus, ovaries and adnecal structures
Used in assessment of:
- Urogenital tract
- Foetal development
- Pelvic organs
What is a transvaginal ultrasound used for
Performed to diagnose ovarian cysts, tumors and follicular maturation
Looking at uterus:
- Myometrium (eg to diagnose leiomyomas)
- Endometrium:
- echogenic layer in the long axis view of the uterus (endometrial stripe)
- endometial thickness varies with menstrual cycle
- postmenopausal women with an endometial thickness >8mm should undergo a follow up ultrasound 1-3 months later
- postmenopausal women with an endometrial thickness >10mm should undergo hysteroscopy and endometrial curettage to rule out endometrial carcinoma
Assessment of foetal development during first trimester
Meausrement of cervical length in cases of cervical incompetence
What is breast ultrasound used for
Used to assess breast lesions which were detected by palpation, mammography, and/or breast MRI scans
Can also be used to assess the axilla for lymph node involvement if there is suspicion for breast cancer
What is hysteroscopy
A fiberoptic scope is introduced transcervically into the uterus to diagnose and/or treat uterine pathologies
Commonly done as part of the work up of abnormal uterine bleeding
Can be combined with diagnostic/ therapeutic uterine curettage
What is uterine curettage
Scraping away endometrial tissue by introducing a curette into the uterine cavity
What are the Müllerian ducts
A pair of embryonal ducts that give rise to the fallopian tubes, uterus, cervix, and upper one-third of the vagina in a female foetus.
In a male fetus, the production of Müllerian inhibiting factor by the Sertoli cells of the testes causes degeneration of the Müllerian (or paramesonephric) ducts.
What are the anomalies of Müllerian duct fusion
Incidence: 3-4/100 females
Pathophysiology:
- defective fusion of the Müllerian ducts during embryonal development
- normally functioning gonads and female karyotype results in normal development of secondary sexual characteristics (eg breast, pubic hair development)
What are the types of Müllerian duct fusion anomalies
Müllerian agenesis: Both of the Müllerian ducts fail to develop, leading to the absent or hypoplastic uterus, absent cervix, and vaginal agenesis (but functional ovaries)
Unicornuate uterus: One of the Mullerian ducts fails to develop
Didelphic uterus: Complete lack of Mullerian duct fusion resulting in double uterus, double cervix, double vagina
Bicornuate uterus: Incomplete fusion of the mullerian ducts to various degrees:
- Uterus bicornis unicollis - double uterus, single cervix, and single vagina
- Uterus bicornis bicollis - double uterus and double cervix with/without a vaginal septum
Septate uterus: The mullerian ducts fuse, but the septa between the two ducts persists either partially (subseptate uterus) or completely (septate uterus)
DES-related abnormality: In utero exposure to diethylstilbestrol:
- Vagina: adenosine, adenocarcinoma
- Cervix: cockscomb cervix, cervical collar
- Uterus: hypoplasia, uterine synechiae, T shaped uterine cavity
- Fallopian tube: abnormal fimbriae, cornual budding
What are the clinical features of Mullerian duct fusion anomalies
Asymptomatic before puberty
Infertility and dyspareunia
In some cases, periodic lower abdominal pain
Menorrhagia
Amenorrhea
Associated urological (25-50% of cases) and skeletal (10-15% of cases) malformations
Increased risk of these obstetric complications:
- ectopic pregnancy
- cervical incompetence
- preterm labor
- malpresentation
- obstructed or prolonged labour
-retained placenta leading to postpartum haemorrhage
What is dyspareunia
A symptom of pain that occurs during or after sexual intercourse.
What is menorrhagia
A condition of abnormally high flow of bleeding (> 80 mL of bleeding volume) or prolonged duration of bleeding (> 8 days of menstruation) during menstrual periods.
What is malpresentation
An obstetric term that refers to a foetus with a part other than the head overlying the maternal pelvic inlet
How are anomalies of Müllerian duct fusion diagnosed
Screening tests
- Transvaginal or abdominal ultrasound
- Hysterosalpingography
Confirmatory test: MRI
What are the treatments of anomalies of Müllerian duct fusion
Surgical treatment is usually not recommended in the following situations:
- Another treatable cause of infertility co-exists
- The woman is asymptomatic
Metroplasty: reconstruction of the uterus
Septoplasty: a type of metroplasty that only involves resection of the septum in a separate uterus
What is Asherman syndrome
AKA Intrauterine adhesions
Endometrial adhesions or fibrosis
What is the aetiology of Asherman syndrome
Following uterine dilation or curettage (most common cause)
Postinflammatory (eg chlamydia)
What are the clinical features of Asherman syndrome
Usually asymptomatic Abnormal uterine bleeding Secondary amenorrhea Infertility Recurrent pregnancy loss Periodic abdominal pain
How is Asherman syndrome diagnosed
Progesterone withdrawal test: bleeding does not occur following progestin withdrawal given block of the outflow tract
Hysterosalpingography: honeycomb appearance of the uterus
Confirmatory test: hysteroscopy to directly visualise adhesions
How is Asherman syndrome treated
Hysteroscopic resection of the adhesions
Treatment is only indicated if patient is symptomatic
What is an imperforate hymen
A hymen without an opening
A congenital defect
Seen in 1:1000-2000 females
What is the pathophysiology of an imperforate hymen
Central cells of the Müllerian eminence in the urogenital sinus do not disintegrate → imperforate hymen → cryptomenorrhea at puberty (outflow tract obstruction leads to backup of menstrual blood) → hematocolpos (accumulation of blood in the vagina) and/or hematometra (accumulation of blood in the uterus)
What are the clinical features of an imperforate hymen
Asymptomatic before puberty: At birth, vaginal secretions accumulate → may be detected as a swelling in the introitus → spontaneous resolution
Primary amenorrhea with periodic lower abdominal pain
Possible urinary retention, frequency, dysuria
Possible palpable lower abdominal mass
Perineal examination: tense, bulging, bluish membrane in the vulva
How is an imperforate hymen diagnosed
Primarily a clinical diagnosis but imaging may be conducted to rule out transverse vaginal septum
How is an imperforate hymen treated
Excision of the imperforate hymen (hymenectomy)
What is agenesis of the upper vagina
A condition in which the vagina is abnormally closed or absent
Seen in 1/5000 female individuals
Caused by Müllerian agenesis
What is the pathophysiology of agenesis of the upper vagina
Agenesis or hypoplasia of the Müllerian duct → atresia of the upper-third of the vagina
Normally functioning gonads and female karyotype → normal development of secondary sexual characteristics (e.g., breast, pubic hair development)
Associated anomalies:
- Absent or malformed uterus and cervix (in almost all cases)
- Urological malformations (25–50% of cases): single kidney, pelvic kidney, horseshoe kidney
- Skeletal malformations (10–15% of cases)
What are the clinical features of agenesis of the upper vagina
Asymptomatic before puberty Primary amenorrhea Infertility Dyspareunia Perineal examination: vaginal dimple and a hymenal fringe
How is agenesis of the upper vagina diagnosed
Normal levels of LH, FSH, prolactin, estradiol, and testosterone
Ultrasound:
- Absent or malformed uterus (e.g., hemiuterus, rudimentary uterus)
- Normal ovaries
- Possible associated malformations of the kidneys or urinary tract
MRI to determine if functional endometrium is present
How is agenesis of the upper vagina treated
Vaginoplasty
What is the cause of agenesis of the lower vagina
Abnormal development of the sinovaginal bulbs and vaginal plate
What are the clinical features of agenesis of the lower vagina
Primary amenorrhea
Cyclic pelvic pain
How is agenesis of the lower vagina diagnosed
Vaginal dimple may be present on physical exam
Palpable abdominal mass due to distention of the upper vagina
Confirmatory tests: ultrasound or MRI:
- Normal ovaries, uterus, cervix, and upper vagina
- Measurement of the distance from introitus to obstruction
How is agenesis of the lower vagina treated
Surgical pull through procedure
What is the pathophysiology of transverse vaginal septum
Failure of recanalization of the Müllerian duct → transverse septum in the upper-third (45%), lower third (15–20%), and/or middle third (35–40%) of the vagina
Associated with cervical hypoplasia or absence
Cryptomenorrhea → hematocolpos
What are the clinical features of transverse vaginal septum
Asymptomatic before puberty Primary amenorrhea Infertility Periodic lower abdominal pain Possibly, palpable lower abdominal mass Perineal examination: normal vulva and external genitalia
How is transverse vaginal septum diagnosed
Transvaginal ultrasonography
MRI
How is transverse vaginal septum treated
First-line: nonsurgical dilation over 6–12 months using graduated vaginal dilators
Second-line: vaginoplasty
What is labial fusion
Partial or complete adhesion of the labia minora
Occurs in 2-5% of females up to 4 y/o
How common is transverse vaginal septum
1/70,000 females
What causes labial fusion
Absence of estrogen → predisposition to mild infection → local inflammation → raw surface epithelium of the labia minora → adhesions
In rare cases: trauma (sexual abuse), congenital defect
What are the clinical features of labial fusion
Usually asymptomatic
If external urethral opening is obstructed: recurrent attacks of UTI, vaginitis, vestibulitis
Perineal examination:
- A thin vertical midline fold in the perineum
- The labia, vaginal opening, and occasionally the urethral meatus are not visible.
How is labial fusion diagnosed
Primarily clinical diagnosis
How is labial fusion treated
Application of topical oestrogen
What is the start of menstruation called
Menarche
What is the cessation of menstruation
Menopause
What is meant by the term menses
Menstrual bleeding
What regulates the mentstrual cycle
A tightly regulated process in which the coordinated release of hormones from the hypothalamus, pituitary gland, and gonads produces a single mature oocyte. These hormones are controlled by positive and negative feedback loops.
What is amenorrhea
Menstrual cessation
No period
What is primary dysmenorrhea
Recurrent lower abdo pain shortly before or during menstruation (in the abscence of pathological findings that could account for those symptoms)
What is meant by abnormal uterine bleeding
AKA ABU
Increased frequency and/or volume of menstruation
What is meant by Premenstrual syndrome
Discomfort prior to the onset of menstruation that is accompanies by psychiatric, gastro, and/or near symptoms
What is an oocyte
An immature female germ cell that can undergo oogenesis to become an ovum.
How long is a normal menstrual cycle
24-38 days (28 days on average, with the first day of menstrual bleeding counted as day 1 of the cycle
First few years after menarche the cycles will be irregular due to immaturity of the hypothalamic-pituitary-gonadal axis
Cycles are longest at age 25-30, with younger and older individuals having shorter cycles
What is the epidemiology of primary dysmenorrhea
Prevalence up to 90%
Most common gynaecologic condition
Mainfiestes during adolescence (typically within 3 years of menarche)
What is the aetiology of primary dysmenorrhea
Not completely understood
Associated with risk factors:
- Early menarche
- Nulliparity
- Smoking
- Obesity
- Postive family history
What is the pathophysiology of primary dysmenorrhea
Increased endometrial prostaglandin (PGF2 alpha) production leads to vasoconstriction/ischemia and stronger, sustained uterine contractions (to prevent blood loss).
What are the clinical features of primary dysmenorrhea
Usually occurs during the first 1–3 days of menstruation
Spasmodic, crampy pain in the lower abdominal and/or pelvic midline (often radiating to the back or thighs)
Headaches, diarrhea, fatigue, nausea, and flushing are common accompanying symptoms.
Normal pelvic examination
How is primary dysmenorrhea diagnosed
Primary dysmenorrhea is a diagnosis of exclusion.
Rule out conditions that cause secondary dysmenorrhea (e.g., endometriosis).
How is primary dysmenorrhea treated
Symptomatic treatment: pain relief (e.g., NSAIDs), topical application of heat
Hormonal contraceptives (e.g., combined oral contraceptive pill, IUD with progestogen)
What is secondary dysmenorrhea
Recurrent lower abdominal pain shortly before or during menstruation that is due to an underlying condition
What is the epidemiology of secondary dysmenorrhea
May begin later in life than primary dysmenorrhea
Commonly affects female individuals ≥ 25 years of age
What is the aetiology of secondary dysmenorrhea
Uterine causes:
- Pelvic inflammatory disease (PID)
- Intrauterine device (IUD)
- Adenomyosis
- Fibroids (intracavitary or intramural)
- Cervical polyps
Extrauterine causes:
- Endometriosis
- Adhesions
- Functional ovarian cysts
- Inflammatory bowel disease
What are the clinical features of secondary dysmenorrhea
Depend on the underlying cause
Secondary dysmenorrhea should be suspected in the following cases:
- Abnormal pelvic examination (e.g., uterine size, cervical motion tenderness, adnexal tenderness, masses, vaginal/cervical discharge)
- The pain tends to get worse over time.
- No previous history of pain with menstruation
- Infertility (e.g., adhesions, endometriosis, PID)
- Irregular cycles
- Heavy menstrual flow (e.g., adenomyosis, fibroids, polyps)
- Dyspareunia or postcoital bleeding
- Partial or no response to therapy with NSAIDs and/or hormonal contraceptives
How is secondary dysmenorrhea diagnosed
Depend on the underlying cause Initial laboratory testing CBC with differential (rules out infection) Urinalysis (rules out UTIs) Other β-hCG (rules out ectopic pregnancy), Gonococcal/chlamydial swabs (rule out STDs and PID) Pelvic ultrasound
How is secondary dysmenorrhea treated
Treat the underlying cause
What is dyspareunia
A symptom of pain that occurs during or after sexual intercourse.
What is primary amenorrhea
The absence of menarche at 15 years of age despite normal development of secondary sexual characteristics
or
Absence of menses at 13 years of age in female individuals with no secondary sexual characteristics
What is the aetiology of primary amenorrhea
- Constitutional growth delay
- Hypogonadotropic hypogonadism
- Hypergonadotropic hypogonadism
- Anatomic anomalies
- Receptor and enzyme abnormalities
How is primary amenorrhea diagnosed
Pregnancy test
Check for secondary sexual characteristics and anatomical anomalies (physical examination, pelvic ultrasound):
- Uterus absent: Perform karyotyping and serum testosterone to investigate for male/female genotype and androgen sensitivity
- Uterus present: Test FSH and LH levels:
- -Exclude imperforate hymen, vaginal atresia, and transverse vaginal septum.
- -↑ FSH: primary ovarian insufficiency (e.g., Turner syndrome, Swyer syndrome, premature ovarian failure)
- -Normal or ↓ FSH: constitutional growth delay, hypogonadotropic hypogonadism
If galactorrhea is present:
–Check prolactin and TSH levels.
If symptoms of hyperandrogenism are present:
- Check serum testosterone and dehydroepiandrosterone sulfate (DHEA-S)
- -If high: Suspect an androgen-secreting tumor.
If blood pressure is high: Suspect congenital adrenal hyperplasia.
How is primary amenorrhea treated
Management of the underlying cause:
- anatomical anomalies - surgery
- Hypogonadism - hormone replacement therapy with oestrogens and progesterone
Goal of treatment is the progression of normal pubertal development
What is amenorrhea physiological
Before menarche
After menopause
During pregnancy
During lactation
What is the female athlete triad of functional hypothalmic amenorrhea
Low calorie intake/ strenuous physical activity
Low bone mineral density
Amenorrhea
What is abnormal uterine bleeding (AUB)
Formerly known as dysfunctional uterine bleeding
Defined as menstrual bleeding that is abnormal and/or irregular in frequency, duration and/or intensity
It may or may not be accompanied by dysmenorrhea
What is the aetiology of abnormal uterine bleeding
PALM -COEIN system
Structural causes (PALM):
- polyps
- adenomysosis
- leiomyomas and malignancy and hyperplasia
Nonstructual causes (COEIN):
- coagulopathy
- ovulatory dysfunction
- endometrial
- iatrogenic
- not otherwise classified
What is acute AUB
Episodic uterine bleeding, in a nonpregnant female individual of reproductive age, that is of sufficient volume to require intervention to prevent further blood loss
What is chronic AUB
Uterine bleeding of abnormal frequency, regularity, and/or volume that has persisted for > 6 months
How can AUB be classified
According to aetiology
AUB-C: coagulopathies
AUB-O: ovulation disorders (e.g., disorders of the hypothalamic-pituitary axis)
AUB-E: endometrial disorders
AUB-I: iatrogenic causes (e.g., estrogens, androgens, IUD)
AUB-N: not otherwise classified (e.g., uterine arteriovenous malformations, cesarean scar defect)
How is AUB diagnosed
Gynae history:
- Age of menarche
- Last menstrual period
- Cycle length and regularity
- Pregnancies
- FH
- Recent complaints
- Evaluation of possible causes guided by PALM-COEIN system
- Characteristics of abnormal bleeding (frequency, regularity, duration, volume)
Physical Exam:
- If acute bleed - ensure haemodynamic stability
- Pelvic exam- Assess the severity and source of the bleeding (exclude structural abnormalities, neoplasms and trauma)
- Swabs for microbiologic testing to rule out cervicitis due to gonorrhoea/ chlamydial infection
Pap smear:
- rule out cervical carcinoma
Initial lab testing:
- FBC - anaemia
- Platelet count, PT, PTT, rule out bleeding disorders
- B-hCG - rules out pregnancy
- Additional (TFTs, Prolactin, Serum iron)
Pelvic Ultrasound:
- To rule out structural anomalies
- Evaluation of endometrial thickness
Endometrial biopsy:
- Indications vary by age group and risk factor presence
- Postmenopausal w/ any uterine bleeding and/or endometrial thickness ≥ 4mm
- All >45y/o with frequent, heavy, and/or prolonged bleeding
- <45y/o with frequent, heavy and/or prolonged bleeding who are at high risk for endometrial cancer and/or have failed medical management
When is ovulation
Day 14 (counted from last menstrual period)
Where does fertilisation and therefore conception occur
In the fallopian tube
What is each stage of the fertilised egg during cell division in the fallopian tube
Zygote to morula to blastocyst which then enters the uterine cavity
How many cells in a blastocyst
64 cells
What day does the blastocyst implant in the uterine cavity
23 (counted from last menstrual period), starting metal maternal dialog
What is the most common site for an ectopic pregnancy implantation
Ampulla of the Fallopian tube
What happens at implantation
Blastocyst implants causes release of hCG which stimulates the ovary to produce progesterone
How do HCG levels rise
Rapidly up to 10 weeks, then plateau and potentially drop
How is hCG used in diagnosis
Basis of pregnancy test
Can be detected in serum and urine 4 weeks after last menstrual period, so just 2 weeks after conception
Urine +ve when conc reaches 25IU/ml
What is progesterone
Main pregnancy hormone
Modifies maternal physiology:
-cardio (increase in HR, stroke volume, so cardiac output increase, BP drops)
-resp (less lung capacity, so SOB, may make pathology difficult to identify)
-Uterine quiescence (relaxation)
-Immune system (immuno suppressive - so not to reject baby, but can increase infection risk) (can be a problem in those already immunosuppressed eg HIV)
-smooth muscle relaxation (constipation, UTI - urinary stasis)
Can be given progesterone supplementation to mothers with late miscarriage past 20 weeks previously, as will often improve current pregnancy outcome
How quickly does the foetus grow in the first trimester
Doubles in size every week from 6 until 12 weeks gestation
What can be seen in a pregnancy transvaginal ultrasound at what weeks
4-5 weeks: gestational sac 6mm
5-6 weeks: yolk sac
6 weeks: foetal pole 5mm
6.5-7 weeks: foetal heart activity
8 weeks: limb buds, foetal movements
How is a pregnancy dated
Crown-rump length of foetus
What determines the growth of the foetus
Intrinsic factors:
- Maternal
- height and weight (bigger mum, bigger baby)
- parity (bigger baby the more pregnancies)
- ethnic group
- Foetal
- sex (boys bigger)
- genes/inherited conditions
- multiple pregnancies (twins etc will be smaller than equivalent single foetus)
Extrinsic factors:
- Maternal:
- social class
- nutritional status
- environment (high altitude, smaller baby)
- pre-existion disease
- pregnancy-related disease
- – hypertension (small baby), diabetes (large baby)
- Fetal
- nutrition (placenta)
- Teratogenic
- Infective
- – viral (rubella, CMV)
What is intera uterine growth restriction
When the baby is small for gestational age, not growing as expected
What fetal measurements are taken on ultrasound for foetal growth
BPD: biparietal diameter
HC: Head circumference
AC: Abdominal circumference (T12 level)
FL: Femur length
This is then plotted on percentile graphs
Serial scans needed, one scan cannot prove whether constitutionally small or IUGR.
However, can compare the centile plotting of head circumference and abdominal circumference, and if AC
What does the biophysical profile on ultrasound look at
Indicator of how the baby is coping
Fetal breathing movements
Fetal movements
Fetal tone
Amniotic fluid volume
How is placental function assessed
DOPPLER to assess blood flow in foetal arteries
DOPPLER doesn’t measure blood flow directly but this is inferred from the wave forms on the ultrasound screen to produce the pulsatility index and resistance index
If high PI and RI then sign of placental insufficiency
Alterations in foetal blood flow can be an eraly indication of foetal compromise
What is a high risk pregnancy
A high risk pregnancy is one in which the probability of an adverse outcome in the mother and/or baby is greater than that for a pregnant woman in general
A pregnancy requiring medical involvement
Who is at high risk in pregnancy
Maternal conditions Social factors Obstetric issues in previous pregnancy Problems in this pregnancy Problems during labour
What maternal conditions canmake a pregnancy high risk
Obesity
Diabetes
Hypertension
Chronic disease (renal, autoimmune, respiratory..)
Infections
Previous surgery
VTE (100x more likely for VTE in this pregnancy if previous VTE)
What social factors can make a pregnancy high risk
Teenage pregnancy Maternal age >40 High parity and low interpregnancy interval (> risk of haemorrhaging) Poor socioeconomic conditions Alcohol intake Substance abuse
What obstetric issues in previous pregnancy can make a pregnancy high risk
Caesarean section Preterm delivery Recurrent miscarriage (>/=3) Stillbirth Pre-eclampsia Gestational diabetes Third degree tear
What is a third degree tare
Anal sphincter
3a <50% external AS involved
3b <50% external AS involved
3c internal AS involved
What is a first degree tear
Vaginal sphincter
What is a second degree tear
Tear of perineal muscles
What problems in this pregnancy can make a pregnancy high risk
Multiple Pregnancy Small for gestation age Placenta praevia (low-lying placenta) (has to have a c-section) (will bleed a lot in surgery) Gestational diabetes Pre-eclampsia
What problems during labour can make a pregnancy high risk
Meconium stained liquor Blood stained liquor Worrying features on CTG Need for oxytocin infusion Lack of progress
Who provides the care to pregnant women
Midwife / GP-led - UNCOMPLICATED PREGNANCY
Consultant-led shared care - HIGH RISK PREGNANCY
What is the risk of scar dehiscence in viginal birth after csection (VBAC)
1:200 in spontaneious labour
2-3:200 in medically induced labour
WHat is the success rate of VBAC
75% in spontaneous labour with no previous vaginal deliveries
90% in spontaneous labour with previous vaginal deliveries
Which mother’s who have had a previous C section should not attempt VBAC
Scarring in upper uterine segment:
- classical caesarean incision
- exteme prematurity/ foetal abnormality
- placential site issues
- uterine abnormality/ fibroid position
- J or inverted T incision
- usually due to difficulty during previous delivery
Other previous surgical complications Multiple previous C sections Short inter-pregnancy interval (<1 year) Increased risk of obstructed labour - previous history -BMI -Foetal vs maternal size
Don’t attempt VBAC if not willing for monitored hospital birth
Where is bleeding likely to be coming from in intermenstrual bleeding
Endometrium
Where is bleeding likely to be coming from in post coital bleeding
Cervix or in vagina
Where is bleeding likely to be coming from in post menopausal bleeding
12 months free of period,
Red flag for potential endometrial cancer
Most common cause atrophic vaginitis
What is dyspareunia
Pain during intercourse
Can be superficial or deep
What is GnRH
Gonodotrophin Releasing Hormone
Decapeptide
Secreted by mid basal hypothalamic neurons
Hourly pulses
Transported to pituitary via hypophyseal portal blood system
What affects GnRH secretion
Bereavement Anxiety Time zone Day/night duty Exercise Weight loss/gain
What is the role of FSH
AKA Follicle stimulating hormone
Stimulates follicular activity, thus promoting estradiol production from granulosa cells
What is the role of LH
AKA Luteinising hormone
Triggers release of egg from dominant follicle
Promotes development of the corpus luteum and the production of progesterone
What is the journey of a follicle leading to ovulation
Primordial follicle Primary/preantral follicle Secondary/antral follicle Provulatory follicle Ovulation
What is the endometrium
Lining of the uterus where a pregnancy will implant and be nourished
What is the proliferative phase
Oestrogen (estradiol E2) causes endometrial proliferation Endometrium thickens Increase in stromal cells Increase in glands, blood vessels By ovulation endometrium 2-3mm thick
Why can oestrogen be dangerous
If allowed to continually produce and so cause continuous proliferation of the endometrium, unopposed by progesterone, it can cause cancer
What is the secretory phase
Progesterone dominant hormone causing: -increasing in secretion -increase in lipids and glycogen -increase in blood supply -endometrium 4-6mm thick Optimal conditions for implantation of fertilised egg (stable, vascular, nutrient rich)
What causes period bleeding commencement each cycle
Drop in prgesterone due to death of corpus luteam
What is high spinnbarkeit
Stringy and runny muscus type midcycle, to facillitate sperm access at ovulation
Where is mucus in the cervix produced
Columnar glands
How is the mucus in the luteal phase of the cycle
Tenacious and inelastic
To prevent microbial ingress so protects the developing embryo
This mucus plug is critical to pregnancy (Coreo amnioitis)
How long is the luteal phase
A constant 14 days in length
What is menopause
Is the last menstrual period
Average age at menopause is ~51 years
What is postmenopause
Is the time after complete cessation of menstruation
Can only be known with certainty after 12 months of amenorrhoea
Or 6 months with high levels of FSH and LH
What is primary ovarian insufficiency
Menopause before age of 40 y/o
What is HRT
Hormone replacement therapy
What symptoms are suggestive of pelvic inflammatory disease
Recent onset (usually <30 days)
Lower abdominal pain – often bilateral
Abnormal vaginal discharge – often purulent
Deep dyspareunia
Abnormal vaginal bleeding including IMB, PCB & menorrhagia
Secondary dysmenorrhoea
What are the risk factors for endometrial cancer
Obesity PCOS Type 2 diabetes Tamoxifen therapy Lynch syndrome
How is abnormal uterine bleeding managed
Attain haemodynamic stability
Pharmacological:
- Acute AUB:
- High dose IV conjugated equine oestrogen
- Alternatives: multidose regimens of Oral contraceptive pills or oral progestins, as well as tranexamic acid
- Oculatory Bleeding:
- OCP, Progestin
- NSAIDs
- Tanexamic acid
- Anovulatory bleeding:
- Progestin PO for 10 days or as an IUD
- OCPs
Surgical:
- Uterine dilation and curettage with concomitant hysteroscopy
- Endometrial ablation
- Trancatheter uterine artery embolisation
- Hysteroscopy
- Hysterectomy
What are the indications for surgical intervention in AUB
Severe bleeding/ hemodynamic instability
Patient unresponsive to hormonal treatment
Hormonal treatment contraindicated (e.g., breast cancer, endometrial cancer)
Underlying medical condition requiring surgical repair
What are the signs and symptoms of PMS
Onset of symptoms 5 days before menstruation
Pain: dyspareunia, breast tenderness, headache, back pain, abdominal pain
Gastrointestinal changes: nausea, diarrhea, changes in appetite (food cravings)
Bloating and weight gain
Tendency to oedema formation
Neurological: migraine, increased sensitivity to stimuli
Psychiatric: mood swings, drowsiness, lethargy, exhaustion, depression, anxiety, aggressiveness, social withdrawal
How is PMS diagnosed
Diagnosis is based on history and self-assessment
Preexisting endocrine (e.g., thyroid disorders) and psychiatric (e.g., major depressive disorder) conditions should be ruled out.
WHat is PMS
The onset of severe discomfort or functional impairment prior to menstruation
What is Premenstrual dysphoric disorder
Aka PMDD
Severe affective symptoms and behavioural changes that cause clincially significant disturbance to daily life
What are the diagnostic criteria for PMDD
Present up to 7 days prior to the onset of menstruation for the majority of cycles within one year
≥ 5 symptoms that are marked and/or persistent (e.g., depressed mood, anxiety, anger, affective lability, sleep disturbances, change in appetite, pain, headache)
Significant interference in daily life (work, home, social activities, interpersonal relationships)
What are the diagnostic criteria for PMS
Present in the 5 days prior to the beginning of menstruation for at least 3 consecutive cycles
End within 4 days after the beginning of menstruation
Interfere with normal daily life activities
How is PMS treated
Lifestyle changes can be beneficial (e.g., regular exercise, healthy diet, avoiding individual triggers like alcohol, caffeine, or nicotine).
First-line treatment
- NSAIDs (e.g., naproxen)
- OCPs
- SSRIs (e.g., fluoxetine) in the case of severe PMS and PMDD
Dietary supplements: reduce symptoms and improve mood swings
- Calcium (1,200 mg/day) [16]
- Vitamin E
- Vitamin D
In the case of water retention/bloating:
- Diuretics (e.g., spironolactone)
- Magnesium
What is Mittelschmerz
Physiological preovulatory pain in female individuals of reproductive age
Also referred to as ovulatory or midcycle pain
How common is Mittelschmerz
~40% of females of reproductive age
What is the aetiology of Mittelschmerz
Enlargement and rupture of the follicular cyst and contraction of Fallopian tubes during midcycle ovulation leading to transient peritoneal irritation from follicular fluid.
WHat are the clinical features of Mittelschmerz
Recurrent unilateral lower abdominal pain (can mimic appendicitis)
Pain occurs during midcycle in individuals with regular menses.
Dull and achy pain which can become cramp-like
Can last up to 3 days
Physical examination: lower abdominal pain on palpation
How is Mittelschmerz managed
With NSAIDs as needed
What is PCOS
One of the most common endocrine disorders in women
It is characterized by hyperandrogenism (which primarily manifests as hirsutism, acne, and, occasionally, virilization), oligoovulation/anovulation, and/or the presence of polycystic ovaries.
What is teh prevalence of PCOS
6-12% of women in their reproductive years in the US
What is the most common cause of Hyperandrogenism
PCOS
What are the clinical features of PCOS
Menstrual irregularities
- Primary or secondary amenorrhea
- Oligomenorrhea
- Menorrhagia
- Infertility or difficulties conceiving
Insulin resistance and associated conditions
- Metabolic syndrome (especially obesity) → ↑ risk of sleep apnea
- Nonalcoholic fatty liver disease
Skin conditions
- Hirsutism
- Androgenic alopecia
- Acne vulgaris
- Oily skin
- Acanthosis nigricans
Psychiatric conditions
- Depression
- Anxiety disorders
How does PCOS present macroscopically
Multiple, brown cysts arranged in a circular pattern in the subcapsular region of the ovary
Cysts are relatively small and of approximately the same size.
How does PCOS present microscopically
Ovarian hypertrophy with thick capsule Stromal hyperplasia and fibrosis Multiple enlarged cystic follicles Hyperluteinized theca cells Decreased granulosa cell layer
What are the differentials for hyperandrogenism
PCOS Nonclassic congenital adrenal hyperplasia Congenital adrenal hyperplasia Cushing disease Hypothyroidism Hyperprolactinaemia Androgen secreting tumor Acromegaly Ovarian hyperthecosis Placental aromatase deficiency Drug induced (eg exogenous steroid and androgen intake)
What is hyperandrogenism
A state of excess androgen levels that causes symptoms such as growth of facial hair, deepening of the voice, and male-pattern baldness
What are the clinical features of hyperandrogenism
Virilization: the appearance of male secondary sexual characteristics in a female individual
Hirsutism: excessive male pattern hair growth (e.g., chin, upper lip, mid-sternum, abdomen, back, buttocks)
Male-pattern hair loss
Acne
Increased muscle mass
Voice deepening
Clitoromegaly
Rapid onset of virilization is suggestive of exogenous androgen intake or androgen-secreting tumors
Manifestations of the underlying condition
How is hyperandrogenism diagnosed
Laboratory tests to identify hyperandrogenemia:
↑ Serum total testosterone
↓ SHBG
Free androgen index
Investigate for the underlying cause.
How is hyperandrogenism treated
Medication to suppress or block androgen and manage symptoms of virilization
OCP
Antiandrogen drugs (e.g., spironolactone, finasteride)
Treat the underlying cause (e.g., surgery for androgen-secreting tumors).
What is the Rotterdam criteria
Criteria used to diagnose PCOS
Must have 2 or more of the following (and have excluded other anocrinological conditions)
-Oligoovulation and/or anovulation
-Hyperandrogenism (based on clinical features or laboratory studies): Examine patients for signs of acne, alopecia, and hirsutism; obtain laboratory studies as needed. [6]
-Enlarged and/or polycystic ovary on ultrasound
– Ovarian volume ≥ 10 mL
– AND/OR the presence of multiple cystic follicles measuring 2–9 mm (string-of-pearls appearance) in one or both ovaries [10]
What are the laboratory studies for PCOS
Confirm hyperandrogenism: -Obtain in all women with clinical features of PCOS, even if features are minimal or unclear: ↑ Testosterone ↑ Androstenedione ↑ dehydroepiandrosterone sulfate
Rule out differential diagnoses: e.g., pregnancy, endocrine disorders
A clinical picture of hyperandrogenism fulfills a diagnostic criterion of pcos, even if serum androgen levels are normal
An elevated LH (with LH:FSH ratio > 2:1) is a characteristic finding in most patients with PCOS but not necessary for diagnosis.
Identification of cystic follicles is not mandatory to diagnose PCOS
What screening must those with PCOS undergo
Patients with PCOS are at risk of serious comorbidities, even at a young age.
It is important to screen for these at the first visit and at regular intervals.
Metabolic screening and monitoring:
- Measure weight, height, and waist circumference; calculate BMI.
- For patients with elevated BMI: Obtain a fasting lipid profile and screen for symptoms of obstructive sleep apnea.
- Check blood pressure
- Assess glycemic status
Mental health and quality of life:
-Screen for anxiety, depression, and psychosexual dysfunction.
How is PCOS treated
Weight loss
Combined oral contraceptives:
- Indication: first-line treatment for hyperandrogenism and/or menstrual cycle abnormalities
- Additional benefits:
- ↓ Endometrial hyperplasia → ↓ risk of endometrial carcinoma
- ↓ Menstrual bleeding
- ↓ Acne
- Treatment of hirsutism
Metformin
- improves menstrual irregularities, metabolic outcomes, and weight (especially when combined with lifestyle modifications)
Antiandrogens:
- Controversial role
- Examples: spironolactone, finasteride, flutamide
- Indications: can be considered for treatment of hirsutism and androgen-related alopecia in patients unable to take or tolerate COCs
Additional interventions:
- Antiobesity medications
- Bariatric surgery, may be considered on a case-by-case basis.
How should patients with PCOS, planning to conceive, be treated
Letrozole:
- First-line therapy for ovulation induction
- Improves pregnancy and live birth rates in patients with anovulatory infertility with no other causes
- Mechanism of action: aromatase inhibition reduces estrogen production, stimulating FSH secretion and inducing ovulation
Clomiphene:
- Alternative to letrozole
- May be preferred over metformin monotherapy in obese women with anovulatory infertility
- Mechanism of action: inhibits hypothalamic estrogen receptors → disruption of the negative feedback mechanism governing oestrogen production → ↑ pulsatile secretion of GnRH → ↑ FSH and LH → stimulation of ovulation
Exogenous gonadotropins:
- The low-dose regimen is the second-line treatment for ovulation induction.
- Agents:
- Exogenous FSH
- Human menopausal gonadotropin
- Indication: typically used if first-line therapies are unsuccessful; occasionally used as first-line if the drug and monitoring requirements are accessible
Metformin:
- Can be used as second-line monotherapy for fertility treatment.
- Combination with clomiphene may increase pregnancy rates, especially in obese women.
- First-line therapy for insulin resistance
Additional fertility interventions:
- Laparoscopic ovarian drilling:
- a laparoscopic procedure in which ovarian tissue is reduced with a laser beam or surgical needle to decrease its volume and androgen production
- this hormonal shift can induce FSH secretion and improve ovarian function in patients with polycystic ovary syndrome.
- second-line treatment for ovulation induction; can be performed as a first-line treatment if other indications for laparoscopy exist
In vitro fertilization: can be offered as third-line therapy
Management of other PCOS manifestations
- Hirsutism:
- Nonpharmacological therapy is first-line (e.g., electrolysis, light-based hair removal via laser or photoepilation)
- Acne:
- Consider topical therapies (e.g., benzoyl peroxide, topical antibiotics)
What are potential complications of PCOS
Cardiovascular disease Type 2 diabetes mellitus Increased cancer risk (before menopause) -Endometrial cancer -Ovarian cancer -Pancreatic cancer -Kidney cancer -Endocrine cancers (except thyroid) Increased miscarriage rate
What is perimenopause
Definition: the time period from the first instance of climacteric symptoms caused by fluctuating hormonal levels to one year after menopause
Duration: The average length of perimenopause is 4 years.
What is premenopause
Definition: the time period from the first occurrence of climacteric irregular menstruation cycles to the last menstrual period
Onset: usually 45–55 years of age
Characterized by increasingly infrequent menstruation
At what age does the menopause occur
~49–52 years (earlier in smokers)
What is postmenopause
The time period beginning 12 months after the last menstrual period
What is the pathophysiology of menopause
Numerical depletion of ovarian follicles with age → ↓ ovarian function → ↓ estrogen and progesterone levels → loss of negative feedback to the gonadotropic hormones → ↑ GnRH levels → ↑ levels of FSH and LH in blood (hypergonadotropic hypogonadism) → ↑ frequency of anovulatory cycles → ovarian function eventually stops permanently
What are the clinical features of menopause
HAVOCS:
- Hot flashes/ Heat intolerance
- Atrophy of Vagina
- Osteoporosis
- Coronary artery disease
- Sleep impairment
Irregular menses to complete amenorrhea
Autonomic symptoms:
- Hot flushes
- Vertigo
- Headache
Mental symptoms:
- Sleep impairment
- Depressed mood
- Mood swings
- Anxiety
- Irritability
- Loss of libido
Atrophic features (result from an age-related drop in oestrogen levels)
- Breast tissue atrophy (tenderness and reduced size)
- Vulvovaginal atrophy
- Urinary atrophy
- urinary incontinence
- dysuria
- urinary frequency
- urgency
- increased UTIs
- Osteoporosis
Weight gain and bloating
Hirsutism (due to relative increase in androgens
Increased risk of Coronary artery disease
What is a surgical menopause
Due to removal of ovaries (commonly after hysterectomy with bilateral salpingo-oophorectomy)
How is menopause diagnosed
Diagnosis is usually clinical. However, certain laboratory tests may help confirm the onset/presence of perimenopause: -↓ Estrogen -↓ progesterone -↓ inhibin B -↑↑ FSH -Testosterone and prolactin levels are within normal ranges. -Vaginal pH > 4.5 -Lipid profile: -- ↑ total cholesterol -- ↓ HDL
When is menopause treatment indicated
Treatment is not warranted for all women approaching or undergoing menopause, as it is a normal aging process. Treatment may be considered in the following cases: Symptoms are severe enough to infringe significantly on functional capacity, and hence affect quality of life. Premature menopause Surgical menopause (e.g., post-oophorectomy)
What is HRT
Short term treatment of menopausal symptoms
Types:
Estrogen therapy: for women who have had a hysterectomy
Estrogen plus progestin therapy: for women with a uterus
Routes: oral, transdermal
Risks
Cancer
Unopposed estrogen can result in endometrial hyperplasia → increased risk of endometrial cancer
Estrogen plus progestin therapy → increased risk of breast cancer
Cardiovascular disease: coronary heart disease, deep vein thrombosis, pulmonary embolism, stroke
Gallbladder disease
Stress urinary incontinence
Contraindications
Undiagnosed vaginal bleeding
Pregnancy
Breast cancer/endometrial cancer
Chronic liver disease
Hyperlipidemia
Recent DVT/stroke
Coronary artery disease
What are the non-hormonal therapies available for menopause treatment
Non-hormonal therapy is used to treat menopausal vasomotor symptoms in women who do not want to use hormonal medications or who have contraindications for HRT.
Selective estrogen receptor modulators:
- tamoxifen
- ospemifene
- raloxifene
Paroxetine:
-for vasomotor symptoms (i.e., hot flashes)
Clonidine and/or gabapentin
What is the definitition of premature menopause
Permanent cessation of menses before the age of 40
What causes premature menopause
Idiopathic
Primary ovarian insufficiency
Bilateeral oophorectomy
What is ovarian insufficiency
Failure of adequate ovarian function (endocrine as well as reproductive) before the age of 40, which often leads to premature menopause
What is primary ovarian insufficiency
Ovarian insufficiency despite adequate gonadotropin stimulation (previously called premature ovarian failure)
What causes primary ovarian insufficiency
Idiopathic (90% of cases)
Genetic disorders associated with ovarian hypoplasia, especially in women < 30 years (e.g., Turner syndrome, Swyer syndrome, androgen insensitivity syndrome, adrenogenital syndrome, fragile X syndrome)
Autoimmune diseases (e.g., autoimmune lymphocytic oophoritis, Hashimoto thyroiditis, Addison disease, type I diabetes mellitus, pernicious anemia)
Toxins: Smoking is a major risk factor.
Iatrogenic: radiation and/or chemotherapy, prolonged GnRH agonist therapy, induction of multiple ovulation in infertility treatment
Infectious diseases (e.g., measles, mumps, tuberculosis of the genital tract)
What is the pathophysiology of premature ovarian insufficiency
Follicular dysfunction or depletion → ↓ estrogen levels → reduced feedback inhibition of estrogen on FSH and LH → ↑ FSH and LH (usually FSH > LH)
What are the clinical features of premature ovarian insufficiency
Climacteric symptoms such as vaginal dryness, night sweats, hot flashes, dyspareunia, and irritability
Abnormal/irregular bleeding pattern that can progress to secondary amenorrhea or permanent cessation of menstruation
Infertility or reduced fertility (Pregnancy is possible via in vitro fertilization.)
How is premature ovarian insufficiency diagnosed
Confirmed by two high FSH levels (> 30–40 mIU/mL) and two low estradiol levels (< 50 pg/mL) at least 1 month apart after > 3 months of menstrual irregularities in a woman under age 40
Further tests help determine the underlying cause (e.g, karyotyping, thyroid function)
How is premature ovarian insufficiency treated
Hormone replacement therapy
Treatment of underlying causes
What is secondary ovarian insufficiency
Ovarian insufficiency due to inadequate stimulation of the ovaries by the hypothalamus and/or pituitary
What is the definition of postmenopausal bleeding
Any vaginal bleeding that occurs after menopause in women who are not taking HRT or any unscheduled bleeding in women who are taking HRT
What causes postmenopausal bleeding
Endometrial or vulvovaginal atrophy, submucous leiomyomas, and endometrial polyps are among the most common causes of postmenopausal bleeding.
Approx. 10% of cases of postmenopausal bleeding are due to endometrial cancer
What is pelvic organ prolapse
AKA POP or Female genital prolapse
The protrusion of bladder, rectum, intestines, uterus, cervix, or vaginal apex into the vaginal vault due to decreased pelvic floor support.
What is a partial or subtotal prolapse
Pelvic organs are only partially outside the vaginal opening
What is a total prolapse
Pelvic organs are everted and located outside the vaginal opening
What is the endopelvic fascia
The anatomy which suppots the pelvic floor and consists of:
- Uterosacral ligament complex (suspends the uterus and vaginal apex from the sacrum and lateral pelvis)
- Paravaginal attachments
- Perineal body, perineal membrane, and the perineal muscles
What are the specific sites of prolapse
Vaginal wall prolapse:
- Anterior vaginal wall prolapse: herniated anterior vaginal wall, which is often associated with a cystocele (descent of the bladder) or urethrocele (descent of the urethra); can be due to weakness of the pubocervical fascia
- Posterior vaginal wall prolapse: herniated posterior vaginal wall, which is associated with a rectocele (descent of the rectum) or enterocele (herniated section of the intestines); can be due to weakness of the rectovaginal fascia
Uterine prolapse: descent of the uterus
Vaginal vault prolapse: descent of the apex of the vagina
Apical compartment prolapse: herniated uterus, cervix, or vaginal vault
Uterine procidentia: protrusion of all vaginal walls or cervix beyond the vaginal introitus
Who is most likely to have POP
Common disorder in older women
What causes POP
POP is due to an insufficiency of the pelvic floor muscles and the ligamentous supportive structure of the uterus and vagina, which may be caused by:
- Multiple vaginal deliveries and/or traumatic births (greatest risk factor)
- Low estrogen levels (e.g., during menopause)
- Increased intraabdominal pressure (e.g., obesity, cough related to chronic lung disease and/or smoking, ascites, pelvic tumors, constipation)
- Previous pelvic surgery (e.g., hysterectomy)
- Congenital connective tissue disorders
- Diabetes mellitus
What are the clinical features of POP
Feeling of pressure on or discomfort around the perineum (“sensation of vaginal fullness”)
Lower back and pelvic pain (may become worse with prolonged standing or walking)
Rectal fullness, constipation, incomplete rectal emptying
Prolapse of the anterior (most common) or the posterior vaginal wall:
- Occurs at rest and with increased abdominal pressure
- Possibly with excessive vaginal discharge on inspection, bimanual examination, and speculum examination of the patient in lithotomy position
Weakened pelvic floor muscle and anal sphincter tone
What is the Pelvic Organ Prolapse Quantitation system
AKA POP-Q
Stage 0: no prolapse
Stage 1: The most distal portion of prolapse is more than 1 cm above the level of the hymen.
Stage 2: The most distal portion of prolapse is 1 cm or less proximal or distal to the hymenal plane.
Stage 3: The most distal portion of prolapse is more than 1 cm from the hymenal plane but no more than 2 cm less than the vaginal length.
Stage 4: The vagina is completely everted or uterine procidentia has occurred.
What are the differentials of POP
Elongation of the cervix
Urethral diverticulum
Pelvic floor dysfunction
What is urethral diverticulum
A distinct outpouching of the urethral mucosa most often located posterolaterally in the mid and distal two-thirds of the urethra
What is the aetiology of urethral diverticulum
Acquired (most common):
- Recurrent infection of the periurethral glands
- Pelvic trauma (particularly involving the vagina, bladder, or urethra)
- Gynecological surgery, periurethral procedures
- Vaginal delivery
Congenital
What are the clinical features of urethral diverticulum
Dysuria
Dyspareunia
Urinary incontinence (particularly, postvoid dribbling of urine)
Tender anterior vaginal wall mass during pelvic examination
How is urethral diverticulum diagnosed
MRI
Transvaginal ultrasound if MRI is not available/feasible
Urinalysis to evaluate for other conditions (e.g., urinary tract infection or malignancy)
What is a skene dust cyst
A retention cyst that results from obstruction, accumulation of fluid, and cystic dilation of the ducts that drain the paraurethral glands.
Manifests with dysuria, dyspareunia, and urinary overflow incontinence.
Pelvic examination typically shows masses located just lateral to the external urethral meatus.
How is urethral diverticulum treated
Conservative management
- Indicated for individuals with minor symptoms
- Manual compression of the suburethral mass after voiding
Surgery
- Indicated for individuals with persistent symptoms, urinary calculi in the diverticulum, or suspicion of malignancy
- Transvaginal diverticulectomy: is a preferred procedure
What is pelvic floor dysfunction
Inability to relax and coordinate pelvic floor muscles correctly in order to urinate and/or have bowel movements
What are the clincial features of pelvic floor dysfunction
Urinary incontinence, urgency, and/or dysuria
Fecal incontinence
Dyssynergic defecation
Dyspareunia
Lower back or pelvic pain
Feeling of pressure on the pelvic region or rectum
Pelvic muscle spasms
How is pelvic floor dysfunction diagnosed
Clinical features and physical examination
Pelvic ultrasound
Urodynamic studies
Anorectal manometry
How is pelvic floor dysfunction treated
Pelvic floor muscle training (e.g., Kegel exercises) and physical therapy
Biofeedback and electrical stimulation: probes or electrodes are placed externally or inserted into the vagina or rectum to stimulate the pelvic floor muscles
Stool softeners and muscle relaxants
How is pelvic organ prolapse treated
Conservative:
- First line
- Insertion of a vaginal pessary to support the pelvic organs:
- A silicone or latex device that is inserted into the vagina
- Pessary insertion is not a long-term treatment!
- Reduction of modifiable risk factors (e.g., avoid smoking to prevent a chronic cough, weight loss, prevent constipation)
- Kegel exercises: pelvic floor muscle training (also as a preventive measure)
Surgery:
- Indicated for symptomatic prolapse if conservative treatment fails or the patient declines it
- Obliterative surgery: colpocleisis in which the vagina is closed off or narrowed to provide more support for pelvic organs.
- Reconstructive surgery (abdominal or vaginal approach): to restore the original position of the descended pelvic organs
- Sacrocolpopexy (with vaginal vault suspension and hysterectomy): fixation of the vaginal apex to the sacrum for the repair of apical or vaginal vault prolapse, with suspension and hysterectomy
- Suspension techniques: prolapsed organ is fixated or suspended using native tissues such as the endopelvic fascia, iliococcygeus muscle, uterosacral ligament, or sacrospinous ligaments.
- Colporrhaphy: reinforcement of the anterior or posterior vaginal wall for the repair of cystocele or rectocele
- Sacrohysteropexy: fixation of the cervix to the sacrum for the repair of uterine prolapse
What are potential complications of POP
Pressure ulcers with hemorrhage Ascending infections Urinary disorders Stress incontinence - "Masked" urinary incontinence - Obstructive uropathy Defecation disorders (e.g., constipation or fecal incontinence if the anal sphincter is weakened) Sexual dysfunction Surgical complications (e.g., recurrence)
What is vulvovaginitis
A large variety of conditions that result in inflammation of the vulva and vagina.
What causes infectious vulvovaginitis
Common causes of infectious vulvovaginitis:
- Bacterial vaginosis
- Vaginal yeast infection
- Trichomoniasis
- Aerobic vaginitis
Other causes of infectious vulvovaginitis:
- Gonorrhea
- Chlamydial genitourinary infection
- Enterobius vermicularis (especially in prepubescent girls)
- Scabies (seven-year itch)
- Pediculosis pubis (crabs, pubic lice)
What pathogen is involved in bacterial vaginosis
Gardnerella vaginalis (a pleomorphic, gram-variable rod)
What is the pathophysiology of BV
Lower concentrations of Lactobacillus acidophilus lead to overgrowth of Gardnerella vaginalis and other anaerobes, without vaginal epithelial inflammation due to absent immune response
What are the risk factors for BV
Sexual intercourse (primary risk factor, but it is not considered an STD)
Intrauterine devices
Vaginal douching
Pregnancy
What are the clinical features of BV
Commonly asymptomatic
Increased vaginal discharge, usually gray or milky with fishy odor
Pruritus and pain are uncommon
How is BV diagnosed
Diagnosis is confirmed if three of the following Amsel criteria are met:
Clue cells
- Vaginal epithelial cells with a stippled appearance and fuzzy borders due to bacteria adhering to the cell surface
- Identified on wet mount preparation: A sample of vaginal fluid/discharge is transferred to a slide and mixed with normal saline. The slide is then examined under a microscope.
Vaginal pH > 4.5
Positive Whiff test: an intensified fishy odor after adding 1–2 drops of 10% potassium hydroxide to a sample of vaginal fluid
Thin, homogeneous gray-white or yellow discharge that adheres to the vaginal walls
How is BV treated
If asymptomatic: reassurance; often resolves without treatment
If symptomatic
- First-line: oral metronidazole
- Alternative: topical metronidazole or clindamycin
Oral probiotics
What are potential complications of BV
Acquisition of STDs (e.g., HSV2, HIV, trichomonas, gonorrhea, and chlamydia infection)
Miscarriage and spontaneous abortion
Preterm delivery
Postpartum endometritis
What is the ABCDEFG acronym for BV
Amsel criteria
Bacterial vaginosis
Clue cells
Discharge (gray or milky)
Electrons (pH of vaginal secretions is alkaline)
Fishy odor of discharge
Gestation (increased risk for miscarriage)
All are the most important features of bacterial vaginosis.
What pathogen is involved in vulvovaginal candidiasis (aka vaginal thrush)
Primarily Candida albicans
in immunosuppressed patients also Candida glabrata
What is the pathophysiology of vulvovaginal candidiasis
Overgrowth of C. albicans
Can be precipitated by the following risk factors:
- Pregnancy
- Immunodeficiency, both systemic (e.g., diabetes mellitus, HIV, immunosuppression) and local (e.g., topical corticosteroids)
- Antimicrobial treatment (e.g., after systemic antibiotic treatment)
What are the clinical features of vulvovaginal candidiasis
White, crumbly, and sticky vaginal discharge that may appear like cottage cheese and is typically odorless
Erythematous vulva and vagina
Vaginal burning sensation, strong pruritus, dysuria, dyspareunia
How is vulvovaginal candidiasis diagnosed
Pseudohyphae on wet mount with potassium hydroxide (KOH)
Vaginal pH within normal range (4–4.5)
How is vulvovaginal candidiasis treated
Recommended regimens: topical azole (e.g., miconazole, clotrimazole, butoconazole) OR single-dose oral fluconazole
Recommended in pregnant women: topical azole OR nystatin pessary (where available)
What pathogen is involved in Trichomoniasis
Trichomonas vaginalis
Anaerobic, motile protozoan with flagella
Does not encyst and, therefore, does not survive well outside the human body
Under micrscope wiggles its little tail
How is TV transmitted
Sexually
What are the clinical features of TV
Foul-smelling, frothy, yellow-green, purulent discharge
Vulvovaginal pruritus
Burning sensation
Dyspareunia
Dysuria
Strawberry cervix (erythematous mucosa with petechiae)
How is TV diagnosed
Saline wet mount of vaginal smear: motile trophozoites with multiple flagella
If wet mount is inconclusive, perform culture.
pH of vaginal discharge > 4.5
How is TV treated
Oral metronidazole OR tinidazole for the patient and sexual partner(s) [7]
Check for other sexually transmitted infections
What is the study phrase for TV and what does it mean
“After sex, Burn the Foul, Green Tree:”
burning sensation and foul-smelling, yellow-green discharge are the features of trichomonasis.
What are the types of noninfectious vulvoganitis
Atrophic vaginits
Aerobic vaginits
Allergic vulvovaginitis
Mechanical vulvovaginitis
What are the clinical features of atrophic vaginitis
Decreasing labial fat pad Vaginal soreness, dryness Dyspareunia, burning sensation after sex Discharge, occasional spotting Commonly associated with receding pubic hair
How is atrophic vaginitis diagnosed
primarily a clinical diagnosis, additional tests (e.g., pH test, wet mount) are often nonspecific
How is atrophic vaginitis treated
Nonhormonal vaginal moisturizers and lubricants if mild symptoms
Vaginal estrogen therapy if moderate to severe symptoms
Systemic hormone therapy if vasomotor symptoms
What is the aetiology of atrophic vaginitis
Low estrogen levels (e.g., after menopause, bilateral oophorectomy, radiotherapy, chemotherapy, immunological disorders)
Atrophy of epithelium in vagina and vulva
What is aerobic vaginitis
An inflammatory vaginitis of noninfectious origin with microbiome disturbance and secondary bacterial infection
What pathogens are involved in aerobic vaginitis
Gram-negative: Escherichia coli is the most common
Gram-positive: Streptococcus agalactiae, Staphylococcus aureus, and Enterococcus faecalis
What is the pathophysiology of aerobic vaginitis
Lower concentrations of Lactobacillus species in the vaginal flora → increase in vaginal pH → overgrowth of aerobic pathogens may trigger vaginal immune reaction
What are the clinical features of aerobic vaginitis
Copious, yellow (purulent), odorless vaginal discharge
Vaginal inflammation, redness and swelling
Dyspareunia, burning sensation, itching
How is aerobic vaginitis diagnosed
Negative Whiff test Vaginal pH > 4.5 Leukocytes on microscopy Increased parabasal cells Culture
How is aerobic vaginitis treated
Adapt treatment according to the severity of each of the three disease components (infection, atrophy, and inflammation)
Antibiotics
- Kanamycin OR quinolones (e.g., moxifloxacin)
- Ampicillin for GBS or Enterococcus faecalis infection
Local steroids
Local estrogens
Oral probiotics reduce the risk of remission and relapse
What are potential complications of aerobic vaginitis
Aerobic vaginitis is related to an increased risk of preterm delivery and to other severe pregnancy-related complications (e.g., ascending chorioamnionitis, PROM, miscarriage)
What is the aetiology of allergic vulvovaginitis
Allergies to laundry or cleaning detergents, textile fibers, sanitary pads, etc.
What are the clinical features of allergic vulvovaginits
Pruritus, redness, swelling, burning sensation
How is allergic vulvovaginitis diagnosed
Special allergy diagnostics (e.g. prick/puncture, intradermal test) may be indicated if symptoms persist despite treatment.
How is allergic vulvovaginitis treated
Avoid irritants
Soothing lotions, ice packs, and sitz baths (e.g., containing chamomile)
Cortisone creams if needed
What are the causes of mechanical vulvovaginitis
Pruritus (e.g., due to atopic dermatitis, psoriasis, psychosomatic conditions)
Friction of tight clothes, obesity
Women suffering from postmenopausal estrogen deficiency or lichen sclerosis are especially at high risk.
What are the clinical features of mechanical vulvovaginitis
Pruritus, redness, swelling, sometimes dysuria, and/or dyspareunia
How is mechanical vulvovaginitis diagnosed
Special dermatological or rheumatological tests to find the cause of pruritus
How is mechanical vulvovaginitis treated
Depends on the cause
Soothing lotions/creams, ice packs, and sitz baths (e.g., containing chamomile)
What causes vulvovaginitis in pediatric patients
Poor hygiene (most common cause) Use of perfumed soaps and bubble baths Localized skin disorders Foreign body in the genitourinary tract In some cases, sexual abuse
What is the pathophysiology of vulvovaginitis in pediatric patients
Estrogen levels are lower in prepubescent girls, making the vulvar skin and vaginal mucosa very thin. This makes them more susceptible to vulvovaginitis of any cause.
What are the clinical features of vulvovaginitis in pediatric patients
Vaginal discharge: often bloody, purulent, or foul-smelling
Pain in the lower abdomen and suprapubic region
Increased urinary frequency, burning on urination, and dysuria
In some cases, visible segment of a foreign body at the genital opening
How is vulvovaginitis in pediatric patients diagnosed
If an infectious etiology is suspected, then appropriate Gram stain, culture, prep, DNA PCR, etc. should be conducted.
Direct visualization of the foreign body, either on physical examination or by means of pelvic ultrasonography, plain pelvic radiography, vaginography, or MRI
How is vulvovaginitis in pediatric patients treated
In the case of foreign body: removal of foreign body
- First line of treatment: warm saline irrigation of the vagina in an outpatient setting
- If irrigation fails, removal under general anesthesia
- Antibiotics/antifungals are usually not needed if successful removal is achieved, as the vulvovaginitis would then spontaneously resolve.
Topical or oral antibiotics/antifungals
Conservative measures: improving hygiene, avoidance of tight clothing
What is pelvic inflammatory disease
Pelvic inflammatory disease (PID) is caused by a bacterial infection that spreads beyond the cervix to infect the upper female reproductive tract, including the uterus, fallopian tubes, ovaries, and surrounding tissue.
What is the epidemiology of pelvic inflammatory disease
Lifetime prevalence:
~4.5% in women of reproductive age (18–44 years)
> 1 million women experience an episode of PID/year.
PID is one of the most common causes of infertility.
What pathogens are involved in PID
Most common:
- Chlamydia trachomatis
- Neisseria gonorrhoeae
Less common (consider coinfections):
- E. coli
- Ureaplasma
- Mycoplasma
- Other anaerobes
What are the risk factors for PID
Multiple sexual partners Unprotected sex History of prior STIs and/or adnexitis Intrauterine devices Vaginal dysbiosis
Risk is lower during pregnancy;
-PID development during pregnancy increases the risk of maternal morbidity and preterm births
What is the pathophysiology of pelvic inflammatory disease
Infection from the lower genital tract (e.g., vagina, cervix) ascends to infect the upper reproductive tract (endometrium, fallopian tubes, ovaries) and/or peritoneal cavity.
What are the possible sites of infection to cause PID
Endometrium: endometritis Fallopian tubes: salpingitis Ovaries: oophoritis Uterine adnexa: adnexitis Surrounding pelvic structures (parametritis) The peritoneum: (peritonitis)
What are the clinical features of PID
Lower abdominal pain (generally bilateral), which may progress to acute abdomen
Nausea, vomiting
Fever
Dysuria, urinary urgency
Menorrhagia, metrorrhagia
Dyspareunia
Abnormal vaginal discharge (yellow/green color)
What is Metorrhagia
Abnormal bleeding from the uterus
How is PID diagnosed
PID should always be suspected in young, sexually active women who present with lower abdominal pain and adenexal/ cervical motion tenderness
Primarily based on clinical findings
Important diagnostic criteria:
- Patient history: most often a sexually active young woman
- Lower abdominal pain
- Vaginal examination
- Cervical motion tenderness: severe cervical pain elicited by pelvic examination
- Uterine and/or adnexal tenderness
- Purulent, bloody cervical and/or vaginal discharge
Blood tests:
- elevated ESR
- leukocytosis
Pregnancy test: to rule out an (ectopic) pregnancy
Cervical and urethral swab:
- Gonococcal and chlamydial DNA (PCR) and cultures
- Giemsa stain of discharge can show cytoplasmic inclusions in Chlamydia trachomatis infections, but not in N. gonorrhoeae infection.
Imaging:
- Ultrasound: free fluid, abscesses, pyosalpinx/hydrosalpinx
- Exploratory laparoscopy
- Indicated in ambiguous cases and if patient does not respond to treatment
- Characteristic findings include tubal edema, erythema, and purulent exudate.
- Endometrial biopsy: to confirm the presence of endometritis
- Culdocentesis: aspiration of intraperitoneal fluid from the pouch of Douglas:
- Reveals nature of the fluid (e.g., serous, purulent, bloody)
- Culdocentesis is no longer a routine procedure and it has been largely replaced by ultrasound.
What are the differentials of lower abdominal pain in women of reproductive age
Ectopic pregnancy PID Appendicitis Kidney stones Ovarian cyst rupture Ovarian torsion Pelvic cellulitis Cervicitis
What is cervicitis
Inflammation of the uterine cervix
What causes cervicitis
Infectious (most common):
- C. trachomatis,
- N. gonorrhea,
- HSV-2
- T. vaginalis
Noninfectious
- Localized trauma (e.g., cervical caps, diaphragms, tampons)
- Chemical irritation (e.g., contraceptive creams, latex exposure)
- Malignancy
Risk factors Young age Multiple sexual partners New sexual partner within the last 6 months Unprotected intercourse
What are the clinical features of cervicitis
Often asymptomatic
Usually no fever
Vaginal discharge: may be purulent, blood-tinged, and/or malodorous
Dyspareunia
Postcoital or intermenstrual bleeding
Lower abdominal or pelvic pain
Symptoms of the underlying condition (e.g., genital lesions in HSV infections)
Physical examination
Abdominal palpation: possible tenderness/discomfort (if concomitant PID is present)
Bimanual examination: motion tenderness of the cervix
Pelvic examination: erythematous, edematous, friable cervix; possibly visible discharge
How is cervicitis diagnosed
Diagnosis mainly clinical:
- Mucopurulent discharge
- Friable cervix on pelvic examination
Further tests for identification of a pathogen:
- Assess vaginal secretions for appearance, pH, leukocyte count, and visible pathogens (e.g., protozoa in T. vaginalis infections)
- Swab samples for bacterial culture
- NAAT for N. gonorrhea and C. trachomatis
How is cervicitis treated
Antibiotics are tailored to the causative agent
Evaluate sex partner(s) of patients with infectious cervicitis.
Follow-up to evaluate treatment success.
What is a complication of cervicitis
Pelvic inflammatory disease
How is PID treated
Empirical antibiotic therapy (also consider coinfections)
Outpatient regimen:
- One single dose of IM ceftriaxone and oral therapy with doxycycline
- Signs of vaginitis or recent gynecological instrumentation: Add oral metronidazole.
Inpatient regimen (parenteral antibiotics)
- Indications
- No response to or inability to take outpatient oral regimen
- Non-compliance concerns (e.g., teenagers)
- Severe illness with nausea, vomiting, and/or high fever
- Tuboovarian abscess
- Pregnancy
- Possible combinations (should be administered for 14 days)
- Cefoxitin or cefotetan plus doxycycline
- Clindamycin plus gentamicin
- In the case of tuboovarian abscess: Add oral metronidazole or clindamycin (to enhance anaerobic coverage).
- Switch to oral therapy with doxycycline after clinical improvement.
It is better to overtreat rather than delay treatment if PID is suspected
What are potential complications of PID
Short-term complications:
- Pelvic peritonitis
- Fitz-Hugh-Curtis syndrome (perihepatitis)
- Inflammation of the liver capsule
- Characterized by violin-string-like adhesions extending from the peritoneum to the liver
- Tubo-ovarian abscess
- A confined pus collection of the uterine adnexa
- May spread to adjacent organs (e.g., bladder, bowel)
Long-term complications:
- Infertility: caused by adnexitis, adhesions of the fallopian tubes and ovaries, and tubal scarring, which result in impaired ciliary function and tubal occlusion
- Ectopic pregnancy
- Chronic pelvic pain
- Hydrosalpinx/pyosalpinx: accumulation of fluid/pus in the fallopian tubes due to chronic inflammation and consequent stenosis
- Chronic salpingitis
What are the Bartholian glands
Located on both sides of the inner labia
Primarily function to produce mucus that moisturises the vaginal mucosa
This mucus is secreted into the two ducts that appear in the posterior vaginal Introits
What is the pathophysiology of a Bartholian gland cyst
Blockage of the duct by inflammation or trauma → accumulation of secretions from gland → cyst formation
What are the clinical features of a Bartholian gland cyst
Often asymptomatic but can cause mild dyspareunia
How are Bartholian gland cysts diagnosed
Generally a clinical diagnosis based on physical examination.
Pelvic exam: unilateral, palpable mass in the posterior vaginal introitus
Biopsy is indicated if any of the following apply:
- > 40 years of age
- Progressive, solid, and painless mass found during pelvic exam
- Not responsive to treatment
- History of malignancy in the labia
How are Bartholian gland cysts managed
Conservative approach
- Indicated for smaller, asymptomatic cysts ≤ 3 cm
- Involves sitz baths to facilitate rupture of the cyst and/or warm compresses
Surgery
Indicated for larger cysts > 3 cm and/or infected cysts
What is the pathophysiology of a Bartholian gland abscess
Bartholin gland or cyst becomes infected Usually a polymicrobial infection: -E. coli (most common) -Staphylococcus species -Streptococcus species -N. gonorrhoeae -C. trachomatis
What are the clinical features of a Bartholian gland abscess
Acute unilateral pain and tender swelling
Dyspareunia
Pain especially while walking and sitting
Fever (~20% of cases)
Prompt pain relief with discharge (indicates spontaneous rupture of abscess)
How are Bartholian gland abscesses diagnosed
Pelvic exam: unilateral, tender mass surrounded by edema and erythema in the posterior vaginal introitus
Possible culture
STD testing at the request of the patient
Consider biopsy to rule out malignancy
How are Bartholian gland abscesses managed
Indicated in all cases of abscess formation and large cysts (> 3 cm)
Involves incision and drainage followed by marsupialisation or fistulisation with a Word catheter:
- Incise the vestibule longitudinally to expose the cyst or abscess
- Drain cyst or abscess.
Marsupialization: indicated for recurring abscesses
- Evert and suture the edges of the cyst wall to the cut edges of the vestibule.
- This creates a new opening that allows free drainage.
Fistulization with a Word catheter
- Catheter is left in the abscess cavity for four weeks
- Facilitates drainage and allows for reepithelialization
In case of suspected malignancy: biopsy
Surgical excision: indicated in the presence of features suggestive of malignancy (e.g., invasion of surrounding tissue) or failure of less invasive measures
What are the differentials of bartholin gland cysts and abscesses
Bartholin gland carcinoma Folliculitis Inclusion cysts Leiomyomas Fibroma
What are the Bartholin gland carcinoma facts
Epidemiology: primarily found in postmenopausal women
Symptoms: gradual, solid, and painless enlargement of the Bartholin gland
Diagnostics: biopsy
Treatment: Resection of the lesion
If surgery is not possible or as adjuvant therapy: chemotherapy and radiation
What is oestrogen
A female sex hormone that is produced in the ovaries and, to a lesser degree, in the adrenal glands and adipose tissues.
It is essential for the development of primary and secondary sex characteristics, as well as function of the reproductive organs.
It also plays a role in several other processes, including bone metabolism and liver function
What is progesterone
A female sex hormone produced by the corpus luteum in nonpregnant women and, in pregnant women, by the corpus luteum graviditatis until the 10th week of gestation, after which the placenta takes over production.
Progesterone plays an important role in the preparation of the endometrium for implantation of a fertilized ovum and maintenance of pregnancy.
How is oestrogen synthesised
Primarily takes place in the ovarian granulosa cells:
- LH stimulates androgen synthesis in ovarian theca cells.
- FSH stimulates conversion of androgens to oestrogens.
- Conversion of androgens to oestrogens is catalyzed by the aromatase enzyme
Also produced in other aromatase-containing tissues:
- Fatty tissue
- Placenta
- Testicles
- Adrenal glands
What are the types of oestrogen
There are three types of oestrogen: estradiol, estrone, and estriol.
Potency: estradiol > estrone > estriol
During pregnancy, estrogen concentration increases:
- Estradiol and estrone: 100-fold increase
- Estriol: 1000-fold increase (it is secreted by the placenta as unconjugated estriol and a marker of fetal health)
When oestrogen binds to its receptor in the cytoplasm, a hormone-receptor complex is formed that translocates to the nucleus.
How might obesity increase the risk of postmenopausal breast cancer
Potentially due to oestrogen production in adipose tissue
What is the significance of unconjucated estriol in prenatal screening
Measurement of unconjugated estriol (uE3 or free estriol) is part of the prenatal screening for fetal anomalies (i.e., triple screen test and quad screen test).
Decreased levels are associated with Down syndrome, Edward syndrome, molar pregnancy, and fetal demise.
What are the effects of oestrogen
Estrogen is a steroid hormone that promotes female sexual development and stimulates the growth and maturation of primary and secondary sex characteristics.
GENITALIA/SEX CHARACTERISTICS:
Uterus:
- Endometrial proliferation
- ↑ Myometrial excitability
Cervix:
- ↑ Production of cervical mucus: facilitates passage of sperm
- Facilitates cervical dilation during labor
Vagina: proliferation of epithelium
Pubis: hair growth
Breast: breast growth
EXTRAGENITAL TISSUE:
Bones: ↑ bone formation by inhibiting bone resorption (induces osteoclast apoptosis)
Blood vessels: protective effect against atherosclerosis
Blood clotting: ↑ risk of thrombosis
Kidneys: ↑ water and sodium retention (may contribute to oedema)
Protein synthesis
- Slightly ↑ (anabolic effect)
- ↑ Transport proteins (e.g., SHBG)
Adipose tissue: female distribution of adipose tissue
Liver:
- ↓ Bilirubin excretion
- ↑ HDL and ↓ LDL
What are adverse effects of oestrogen
Adverse effects of oestrogen can arise from high levels secondary to increased endogenous production or medication (e.g., hormone replacement therapy during menopause):
- ↑ Cancer risk
- Endometrial cancer
- Breast cancer
- Thrombosis
- Spider nevi, gynecomastia, and testicular atrophy in individuals with cirrhosis
- Breast hypertrophy, gynecomastia (in men), galactorrhea
- Weight gain (oedema)
- Liver toxicity
- Nausea and vomiting
- Depressive moods
What does oestrogen do in colon cancer
Reduces risk of colon cancer
What is hyperestrogenism
A condition of increased circulating oestrogen
What is the aetiology of hyperestrogenism
↑ Estrogen production (e.g., due to ovarian tumors, obesity)
Excess estrogen supplementation (e.g., due to hormone replacement therapy)
↓ Metabolism and excretion of estrogens (e.g., due to chronic liver disease)
What are the clinical features of hyperestrogenism
Both sexes:
- palmar erythema
- spider telangiectasias
Men:
- Gynecomastia
- Testicular atrophy
- Reduced libido
- Erectile dysfunction
- Infertility
- ↓ Body hair (e.g., loss of chest hair, female pattern of pubic hair distribution)
Women:
- Menstrual irregularities
- Enlargement of the breast and uterus
- Infertility
- ↑ Cancer risk (e.g., endometrial cancer)
What is hypoestrogenism
A condition of decreased circulating estrogen
What is the aetiology of hypoestrogenism
Menopause
Ovarian insufficiency: idiopathic or secondary to an underlying conditions (e.g., Turner syndrome, polycystic ovary syndrome)
Congenital aromatase deficiency (↓ aromatase → ↑ androgens and ↓ estrogen)
Hyperprolactinemia (e.g., in pituitary adenomas, hypothyroidism)
GnRH agonists
What are the clinical features of hypoestrogenism
Hot flashes Headaches Reduced libido Breast atrophy ↓ Bone density and secondary osteoporosis Urogenital atrophy Dyspareunia
How is progesterone produced
In nonpregnant women: granulosa cells of the corpus luteum
In pregnant women
- Until the 10th week of gestation: corpus luteum graviditatis
- From 10th week of gestation: placenta (syncytiotrophoblast)
What are the effects of progesterone
The effects of progesterone are mediated via intracellular receptors.
GENITALIA/SEX CHARACTERISTICS:
Uterus:
- Endometrial glandular secretion and spiral artery development
- Inhibits endometrial hyperplasia
- ↓ Estrogen receptor expression
- ↓ Myometrial excitability
Cervix:
-↓ cervical mucus production → cervical mucus thickening (inhibits entry of spermatozoids to the uterus)
Breasts:
-inhibits prolactin (the decrease in progesterone levels after delivery disinhibits prolactin, triggering lactation)
EXTRAGENITAL TISSUE:
Hypothalamus:
- ↑ Body temperature (basis of basal body temperature contraception method)
- Inhibits gonadotropin secretion
ROLE IN MENSTRUAL CYCLE:
- After ovulation, the ruptured follicle transforms into the corpus luteum, which produces progesterone.
- Progesterone induces changes in internal reproductive organs required for proper implantation of a zygote and inhibits the secretion of FSH and LH, preventing other follicles from developing.
What is the clinical significance of progesterone
Associated pathologies: low levels of progesterone are associated with infertility, premature birth, and spontaneous abortion
Synthetic progesterone derivatives (progestins) are indicated for the following conditions:
- Hormonal contraception
- Treatment of abnormal uterine bleeding
- Treatment of endometriosis
- Treatment of endometrial cancer
- Hormone replacement therapy (prevent endometrial proliferation induced by estrogens)
- Progesterone withdrawal test
What is amastia
Absence of breast tissues and nipples
What is polymastia
Presence of accessory breast tissue
What is athelia
Absence of nipples
What is polythelia
Presence of accessory nipples
What is Poland syndrome
Unilateral aplasia/hypoplasia of the pectoral is muscles and breast with associated fingers abnormalities (eg brachysyndactyly)
Most commonly develops on the right side
When do congenital anomalies of the breast arise
Disorders during the process of the mammary ridge regressing in the 7th to 8th week of embryonal development
What are the possible congenital anomalies if the breast
Amastia Polymastia Athelia Polythelia Poland syndrome
What are fibrocystic changes
Benign breast changes characterised by the formation of fibrotic and/or cystic tissue
What’s the epidemiology of fibrocystic change
Most common benign lesion of the breast
Primarily in premenopausal women 20–50 years of age
Up to 50% of women are affected during their lifetime.
What are the histologic subtypes of fibrocystic breast changes
Nonproliferative lesions:
- Cysts: dilated, fluid-filled ducts (blue dome cysts)
- Stromal fibrosis (no malignant potential)
- Apocrine metaplasia
Proliferative lesions (occur with or without atypical cells):
- Sclerosing adenosis
- Proliferation of small ductules and acini in the lobules
- Stromal fibrosis
- Calcifications (slightly increased risk of breast cancer)
- Ductal epithelial hyperplasia (ductal hyperplasia)
- Epithelial hyperplasia of terminal duct cells and lobular epithelium
- Presence of atypical cells is associated with an increased risk of breast cancer.
- Papillary proliferation (papillomatosis) is a type of ductal hyperplasia that has a papillary histopathological appearance.
What are the clinical features of fibrocystic changes
Premenstrual bilateral multifocal breast pain
Tender or nontender breast nodules
Clear or slightly milky nipple discharge
What is Gravidity
The number of times a woman has been pregnant, regardless of pregnancy outcome (includes current pregnancy)
What does nulligravidity mean
No history of pregnancy
What does primigravidity mean
History of one pregnancy (eg. currently pregnant)
What does multigravidity mean
History of two or more pregnancies
What is parity
The number of pregnancies that a woman carries beyond 24 weeks of gestation, regardless of whether the child was born alive or was stillborn
What does nulliparity mean
No history of completed pregnancy beyond 24 weeks
What does primiparity mean
A history of one completed pregnancy beyond 24 weeks
What does multiparity mean
A history of multiple completed pregnancies beyone 24 weeks
How can fetal age be measured
Counted as completed weeks of gestation and completed days (0–6) of the current week of pregnancy
Gestational age: estimated fetal age (in weeks and days) calculated from the first day of the last menstrual period
Conceptional age: the age (in weeks and days) of the fetus calculated from the day of conception (fertilization)
What is the normal duration of pregnancy
40 weeks (280 days)
What is a postterm pregnnacy
A pregnancy that extends beyond 42 weeks gestation
What is a periviable pregnancy
Live birth occurring between 20-25 weeks of pregnancy
What is a preterm birth
Live birth before the completion of 37 weeks
What is an at term birth
37-42 weeks
What ar ethe trimesters of pregnancy
First trimester (weeks 1–13) Second trimester (weeks 14–26) Third trimester (weeks 27–40)
What are the presumptive clinical signs of early pregnancy
Amenorrhea Nausea and vomiting Breast enlargement and tenderness Linea nigra: darkening of the midline skin of the abdomen Hyperpigmentation of the areola Abdominal bloating and constipation Increased weight gain Cravings for, or aversions to, certain foods Increased urinary frequency Fatigue
What are probable signs of early pregnancy
Goodell:
- Cervical softening
- First 4 weeks
Telangiectasias and palmar erythema:
-Small blood vessels and redness of the palms
First 4 weeks
Ladin:
- Softening of the midline of the uterus
- First 6 weeks
Hegar:
- Softening of the lower segment of the uterus
- Between 6 to 8 weeks
Chadwick:
- Bluish discolouration of vagina and cervix
- Between 6 to 8 weeks
Chloasma:
-Hyperpigmentation of the face (forehead, cheeks, nose)
Where is Human chorionic gonadotropin (hCG) produced
Placental syncytiotrophoblast
What is the function of hCG
Maintenance of the corpus luteum during the first 8–10 weeks of pregnancy (LH has a similar function)
Luteal-placental shift: levels decrease after corpus luteum involution (placenta starts synthesizing its own estriol and progesterone)
How is hCG used in pregnancy diagnosis
Pregnancy test: measurement of human chorionic gonadotropin (β-hCG)
Urine β-hCG test (e.g., home pregnancy test):
- Qualitative test (less sensitive than serum pregnancy test)
- β-hCG can be detected in urine 14 days after fertilization
Serum β-hCG test:
- Quantitative test (high sensitivity)
- Detectable 6–9 days (on average) after fertilization
What are the ultrasound findings of a normal pregnancy
Confirms pregnancy
At 5 weeks of pregnancy: detection of the gestational sac (corresponds with a serum β-HCG level of 1500–2000 mIU/mL)
At 5–6 weeks of pregnancy: detection of the yolk sac
At 6–7 weeks of pregnancy: detection of the fetal pole and cardiac activity with transvaginal ultrasound
At 10–12 weeks of pregnancy: detection of fetal heartbeat with doppler ultrasound
At 18–20 weeks of pregnancy: fetal movements
What is the Naegele rule
Used to calculate the expected date of delivery (due date)
First day of the last menstrual period + 7 days + 1 year - 3 months
What can make the Naegele rule inaccurate
Inaccurate if:
- The date of the last menstrual period is uncertain or unknown
- The patient has irregular menstruation cycles
- The patient conceived while taking contraceptive pills
How is ultrasonography used to determine gestational age and estimated due date
More accurate than Naegele rule
Measurement of the crown-rump length (CRL) in the first trimester
Measurement of biparietal diameter, fetal femoral length, and abdominal circumference in the second and third trimesters (can be used for determining gestational age starting at 13 weeks)
What is the symphysis fundal height?
The length from the top of the uterus to the top of the pubic symphysis:
-Used to assess fetal growth and development from approx. 20 weeks’ gestation onwards
-Development is approx. 1 cm/week after 20 weeks
Correlates with gestational age
What causes pelvic girdle pain in pregnancy
Increased pressure from the uterus, lumbar lordosis, and relaxation of the ligaments supporting the joints of the pelvic girdle
How does pelvic girdle pain present
Lower back pain
- Particularly between the posterior iliac crest and the gluteal fold and in the area of the sacroiliac joint
- May radiate to the thighs and hips
- Worsens with weight-bearing
How is pelvic girdle pain diagnosed
Positive pelvic pain provocation tests (e.g., posterior pelvic pain provocation test, FABER test, active straight leg raise)
How is pelvic girdle pain managed
Nonpharmacological: heat therapy, manual therapy (e.g., massage, spinal manipulation), braces, physical therapy
Pharmacological: regular analgesia (paracetamol)
What causes round ligament pain
Stretching of the round ligament of the uterus as the uterus expands
One of the most common conditions during pregnancy
What are the clinical features of round ligament pain
Typically manifests in the second and third trimester
Sharp pain in the lower abdomen and groin area (most often right-sided)
Triggered by sudden and/or rapid movements (e.g., rolling over in bed, sneezing, vigorous physical activity)
How is round ligament pain diagnosed
Based on clinical history
How is round ligament pain managed
Usually no treatment required
Resolves after delivery
What are potential skin changes to occur in pregnancy
Spider angioma
Palmar erythema
Striae gravidarum: scarring that manifests as erythematous, violaceous, and/or hypopigmented linear striations on the abdomen
Hyperpigmentation: chloasma, linea nigra, hyperpigmentation of the nipples
What are the contraindications to aerobic exercise in pregnancy
Severe anemia
Restrictive lung disease
Hemodynamically significant heart disease
Cervical insufficiency
Premature rupture of membranes
Gestational hypertension and preeclampsia
Physical activity should be discontinued in the event of the following:
- antepartum or postpartum hemorrhage
- uterine contractions
- amniotic fluid leakage
- chest pain
- dyspnea before exertion
- dizziness
- headaches
- calf pain/swelling
- and/or muscle weakness with impaired balance.
What are the risk factors for a complicated pregnancy
- Family history (medical and obstetric) of complicated pregnancies
- Personal history
- Advanced maternal age (> 35 years)
- First pregnancy
- Multiple pregnancies
- Multiparity (> 5 births)
- Medical conditions (e.g., antiphospholipid syndrome, hypertension, diabetes mellitus, epilepsy, malignancies)
- Social and environmental factors (e.g., drug use, stress)
- Preexisting gynecological conditions (e.g., uterine leiomyoma, history of uterine surgery)
- Prior complicated pregnancies
- Premature delivery (< 38 weeks), baby with low birth weight, or a baby born with congenital defects
- Prior cesarean delivery
- Rhesus incompatibility
- History of > 2 abortions or placental abruption
- Use of assisted reproductive technologies: in vitro fertilization, ICSI
- Complications that arise during pregnancy
What is oligohydraminos
Amount of amniotic fluid is less than expected for gestational age
What causes oligohydraminos
Fetal anomalies:
- Urethral obstruction (e.g., posterior urethral valves)
- Bilateral renal agenesis
- Autosomal recessive polycystic kidney disease (ARPKD)
- Chromosomal aberrations (e.g., trisomy 18)
- Intrauterine infections (e.g., congenital TORCH infections)
- In multiple pregnancies: twin-to-twin transfusion syndrome
Maternal conditions:
- Placental insufficiency
- Late or postterm pregnancies (> 42 weeks of gestation)
- Premature rupture of membranes
- Preeclampsia
Idiopathic
How is oligohydraminos diagnosed
Small abdominal girth and uterine size for gestational age
Ultrasound: determine amniotic fluid and assess for fetal anomalies
Amniotic fluid index (AFI): a semiquantitative tool used to assess amniotic fluid volume (normal range: 8–18 cm)
- Determined by dividing the uterus into 4 quadrants, holding the transducer perpendicular to the patient’s spine, and adding up the deepest vertical pocket of fluid in each quadrant.
- Oligohydramnios: ≤ 5
- In pregnancies < 24 weeks and multiple gestations, the single deepest pocket is used (normal range: 2–8 cm).
How is oligohydraminos treated
Amnioinfusion: infusion of fluid into the amniotic cavity through amniocentesis
Treat underlying cause
Delivery is advised if the fetus is close to term
What are potential complications of oligohydraminos
Intrauterine growth restriction (due to diminished mobility of the fetus)
Birth complications (e.g. umbilical cord compression)
Potter sequence
What are the clinical features of Potter sequence
Pulmonary hypoplasia (cause of death due to severe neonatal respiratory insufficiency)
Craniofacial abnormalities (e.g., prominent epicanthal and infraorbital folds, flattened nose, receding chin, low set ears)
Wrinkling of the skin
Limb anomalies (e.g., bowed legs, clubbed feet)
How can Potter sequence be remembered
POTTER sequence: Pulmonary hypoplasia (lethal), Oligohydramnios (origin), Twisted facies, Twisted skin, Extremity deformities, and Renal agenesis (classic form).
What is polyhydraminos
Excessive amniotic fluid volume expected for gestational age that results in uterine distention.
What causes polyhydraminos
Typically idiopathic (∼ 70% of cases)
Fetal anomalies:
- Gastrointestinal (e.g., esophageal atresia, duodenal atresia and stenosis): reduced swallowing and absorption of amniotic fluid
- CNS: anencephaly (leads to impaired swallowing of amniotic fluid, leakage of cerebrospinal fluid, and increased urination due to lack of fetal ADH), meningomyelocele (due to leakage of cerebrospinal fluid)
- Pulmonary: cystic lung malformations
- Multiple pregnancy: twin-to-twin transfusion syndrome
- Fetal anemia
- Chromosomal aberrations
- Intrauterine infections (e.g., congenital TORCH infections)
Maternal conditions:
- Diabetes mellitus
- Rh incompatibility (e.g., hemolytic disease of the newborn)
How is polyhydraminos diagnosed
Physical examination: abdominal girth and uterine size large for gestational age
Ultrasound
- AFI ≥ 25
- Assess for fetal anomalies
Others
Rh screen
Blood glucose
How is polyhydraminos managed
Amnioreduction: drainage of excess amniotic fluid
Treat the underlying cause (e.g., glycemic control in diabetic mothers, intrauterine exchange transfusion in hemolytic disease of the newborn)
What are potential complications of polyhydraminos
Fetal malposition Umbilical cord prolapse Premature birth Premature rupture of membranes Premature uterine contractions
What are the predisposing factors for multiple pregnancy
Advanced maternal age (≥ 35 years)
Previous multiple pregnancy
Use of assisted reproductive technology
Maternal family history of dizygotic twins
What are the types of twins
Monozygotic:
- ie identical
- 1/3 of all twin pregnancies
- Division of the fertilised oocyte into two embryonic layers
- Genetically identical
- Can share amniotic sac and placenta in various ways:
- Monochorionic-diamniotic: The twins share a single chorionic sac (the twins share a placenta) but have a separate, individual amniotic sac
- Monochorionic-monoamniotic: The twins share a single chorionic sac (the twins share a placenta) and a single amniotic sac
- Monochorionic-monoamniotic (conjoined twins): The twins share a single chorionic sac (the twins share a placenta) and a single amniotic sac and are conjoined
Dizygotic:
- ie fraternal
- 2/3 of all twin pregnancies
- Fertilisation of two oocytes with two mature spermatozoa
- Genetically different
- Dichorionic-diamniotic: The twins have separate chorionic sacs (separate placentas) and separate amniotic sacs.
What mnemonic can be used to remember time of zygote division in types of twins
A FOUR-wheeler has SPACe for twins.
1st four days (0–3): Separate placenta and amniotic sac
2nd four days (4–7): shared Placenta
3rd four days (8–11): shared Amniotic sac
Day 12 and beyond: Conjoined twins.
How is multiple pregnancy diagnosed
Physical examination:
- Fundal height and abdominal girth are unusually large for the gestational age.
- Two or more fetal heart rates can be heard on auscultation.
Ultrasound:
- Evidence of more than one fetus
- Differentiation between monochorionic and dichorionic twins during early pregnancy
- Dichorionic twins: lambda sign: Both chorionic cavities are separated from one another. Separation of the chorionic and amniotic sacs resembles the Greek symbol λ (lambda) on ultrasound.
- Monochorionic twins: T-sign: One chorionic cavity is present and each twin has an individual amniotic sac. Separation of the amniotic sacs resembles the letter T on ultrasound.
What are the potential complications of multiple pregnancy
Almost all complications associated with normal pregnancies are more likely in multifetal pregnancies.
Maternal illnesses:
- Preterm labor and birth (most common complication)
- Hyperemesis gravidarum
- Gestational diabetes
- Preeclampsia, eclampsia, pregnancy-induced hypertension
- Cervical incompetence, premature rupture of membranes
- Placental insufficiency, hypotrophy, and intrauterine malnutrition of at least one fetus
- Uterine atony
- Miscarriage or loss of one fetus during the first trimester
- Placenta previa
- Increased risk of maternal morbidity
Birth complications:
- prolonged first stage of labor
- premature placental abruption after birth of the first fetus
- prolapsed cord
Fetal illnesses:
-Spontaneous reduction or vanishing twin syndrome: can occur during the first trimester
-Twin-to-twin transfusion syndrome:
– Affects 10–15% of monochorionic twin pregnancies
– Blood is continuously shunted from one twin to the other through vascular anastomoses on the shared placenta, posing a risk to both fetuses.
– (Recipient twin: Polycythemia
Hypervolemia
Polyhydramnios in diamniotic pregnancies)
– (Donor twin:
Anemia
Growth retardation
Hypovolemia, dehydration (stuck twin or cocooned appearance)
Oligohydramnios in diamniotic pregnancies)
-Cord entanglement: can occur only in monoamniotic twin pregnancies
-Increased risk of neonatal morbidity (growth restrictions, prematurity, cerebral palsy, congenital abnormalities) and mortality
How are twins delivered
Indications for Cesarean delivery:
- Monochorionic-monoamniotic twin pregnancies between 32–34 weeks’ gestation
- Breech presentation
- Significant difference in fetal weight
Indication for vaginal delivery:
-Diamniotic twins ≥ 32 weeks with one fetus in vertex presentation
- Indication for induction of labor:
- Dichorionic-diamniotic twin pregnancy at 38 weeks gestation
What is an ectopic pregnancy
A pregnancy in which the fertilised egg attaches in a location other than the uterine endometrium
What is a tubal pregnancy
A pregnancy that occurs within the fallopian tube
What is an interstitial pregnancy
A pregnancy that occurs within the interstitial portion of the fallopian tube (ie the bit that connects the tube to the endometrial cavity)
What is a heterotopic pregnancy
A rare condition involving multiple gestations in which one is intrauterine and another is ectopic
Occurs more frequently in patients undergoing infertility treatments (eg IVF)
Where can an ectopic pregnancy implant
Fallopian tube (∼ 95% of cases):
- Ampulla (∼ 70%)
- Isthmus (∼ 15%)
- Fimbriae (∼ 8%)
- Interstitial/cornual pregnancy (∼ 2%): implantation of gestational sac in the cornua of a bicornuate or septate uterus
Ovary (∼ 3% )
Abdomen (∼ 1%)
Cervix (< 1%)
What are the risk factors for ectopic pregnancy
Anatomic alteration of the fallopian tubes:
- History of PID (e.g., salpingitis)
- Previous ectopic pregnancy
- Surgeries involving the fallopian tubes
- Endometriosis
- Ruptured appendix
- Kartagener syndrome
- Exposure to diethylstilbestrol (DES) in utero
- Bicornuate uterus
Nonanatomical risk factors:
- Smoking
- Advanced maternal age
- Pelvic inflammatory disease
- Intrauterine device
- In vitro fertilization
- Hormone therapy
What are the general symptoms of ectopic pregnancy
Patients usually present with signs and symptoms 4–6 weeks after their last menstrual period.
Lower abdominal pain and guarding (ectopic pregnancy is often mistaken for appendicitis due to the similarity of symptoms)
Possibly, vaginal bleeding
Signs of pregnancy:
- Amenorrhea
- Nausea
- Breast tenderness
- Frequent urination
Tenderness in the area of the ectopic pregnancy
Cervical motion tenderness, closed cervix
Enlarged uterus
Interstitial pregnancies tend to present late, at 7–12 weeks of gestation, because of myometrial distensibility.
What are the clinical features of a tubal rupture
Acute course with sudden and severe lower abdominal pain (acute abdomen)
Signs of hemorrhagic shock (e.g., tachycardia, hypotension, syncope) (In some cases acute hemorrhage may lead to bradycardia)
More common in interstitial pregnancy
What will show on a transvaginal ultrasound in suspected ectopic pregnancy
Indication: best initial imaging test for determining the location of the pregnancy
Supportive findings:
- Empty uterine cavity in combination with a thickened endometrial lining
- Possible free fluid within the pouch of Douglas (unspecific)
- Additional findings in tubal pregnancy:
- Possible extraovarian adnexal mass
- Tubal ring sign (blob sign): an echogenic ring that surrounds an unruptured ectopic pregnancy
- Additional findings in interstitial pregnancy
- Interstitial line sign: an echogenic line that extends from the gestational sac into the upper uterus (thought to be the echogenic appearance of the interstitial portion of the tube)
- A thin myometrial layer (< 5 mm) surrounding the gestational sac
Additional considerations
Ultrasound findings in normal pregnancy: In an intrauterine pregnancy at 5–6 weeks’ gestation, a gestational sac and yolk sac are visible in the uterus.
If the gestational sac cannot be seen at all on ultrasound, the patient is diagnosed with pregnancy of unknown location.
What is the first line investigation of unstable patients with suspected ectopic pregnancy
Exploratory laparoscopy
How is an ectopic pregnancy managed
Stabalise patient
Refer immediately to obs and gynae for emergnecy surgery
If stable, determine whether medical, surgical or expectant management
Supportive management:
- pain relief
- prenatal and contraceptive counselling following treatment
- anti-D immunoglobulin for Rh-neg patients with bleeding
Medical therapy: Methotrexate (first line) -Mechanism of action: inhibits folate-dependent steps in DNA synthesis to terminate the rapidly dividing ectopic pregnancy. -Indications: -- Uncomplicated ectopic pregnancies -- Hemodynamically stable patients -- Unruptured mass -- β-hCG ≤ 2,000–5,000 mlU/mL -- Mass size < 3.5 cm -- No fetal heartbeat -Absolute contraindications: -- Chronic conditions --- Pulmonary (e.g., severe asthma) --- Renal (e.g., creatinine clearance < 50 mL/min/1.73 m2) Hepatic (e.g., alcohol use disorder or chronic liver disease) --- Hematologic (e.g., leukopenia, thrombocytopenia, severe anemia) --- Intrauterine pregnancy --- Breastfeeding --- Methotrexate sensitivity --- Immunodeficiency --- Peptic ulcer disease --- Ruptured ectopic pregnancy
Non-urgent surgical management:
- Indications for nonurgent surgery
- Contraindications for MTX
- Unsuccessful medical treatment
- A concurrent surgical procedure (e.g., bilateral tubal blockage) is necessary.
- The patient has indicated a preference for surgical treatment.
- Approach Laparoscopy (preferred)
- Procedure: salpingostomy, i.e., removal of ectopic pregnancy without removing the affected fallopian tube (tube‑conserving operation)
- Preferred in patients with unruptured tubal pregnancy who do not meet the criteria for conservative treatment
- Complications
- – Risk of persistent ectopic pregnancy
- – Risk of repeat ectopic pregnancy
- -Additional considerations
- – Patients require serial hCG measurement.
- – Consider a prophylactic dose of MTX if there is concern for incomplete resection.
- Salpingectomy may be required in select cases (e.g., large ectopic mass).
Expectant management:
Asymptomatic patients with very low β-hCG levels may experience spontaneous resolution of ectopic pregnancy
-Indications
– Minimal symptoms
– No evidence of ectopic mass on TVUS
– Confirmed plateauing or decreasing serial β-hCG levels
-Considerations during expectant management
– Provide extensive counseling on the risks of complications in addition to general counseling.
– Arrange close surveillance and serial β-hCG measurement (e.g., every 2–7 days).
-Conversion to medical or surgical therapy
– Increasing symptoms, e.g., pain, signs of ruptured ectopic pregnancy
– Insufficient decrease, persistent plateau, or increase in β-hCG levels
How is a ruptured ectopic pregnancy managed
ABCDE approach for patients with obvious signs of rupture and those at high risk of impending rupture.
Suspect ruptured ectopic pregnancy in patients in their first trimester with any of the following:
- Clinical features of shock: e.g., tachycardia, hypotension, pallor
- Severe abdominal or pelvic pain
- Peritoneal signs on examination
- Significant vaginal bleeding
- Clinical deterioration after receiving MTX therapy
Acute stabilisation:
- Start immediate IV fluid resuscitation.
- Rapidly deliver blood transfusion as soon as blood products are available.
- If hypotension persists, start vasopressors
Surgical management:
- Indications for emergency surgery
- Hemodynamic instability
- Symptoms of impending rupture (e.g., severe pelvic pain)
- Signs of intraperitoneal bleeding: e.g., peritonitis, POCUS positive for free fluid
- Risk factors for rupture
- Approach: Laparotomy is preferred for large intraperitoneal bleeding or critically unstable patients, otherwise a laparoscopic approach is typically performed.
- Procedure:
- Salpingectomy, i.e., partial or complete removal of the affected fallopian tube (does not preserve tube function)
- Preferred approach for:
- – Ruptured tube
- – Heavy bleeding
- – Large ectopic mass
- – Severe damage to the fallopian tube
- -Additional considerations
- – If the patient desires future pregnancies: Evaluate the status of the contralateral fallopian tube before salpingectomy.
- If the patient does not desire future pregnancies: Bilateral salpingectomy may be performed.
What is the prognosis in ectopic pregnancy
The condition is fatal for the fetus.
Maternal mortality rate: ∼ 0.6/100,000 in the US
Future fertility: depends primarily on the fertility status prior to the ectopic pregnancy
Recurrence: Approx. 10%
Risk factors:
- History of previous spontaneous miscarriage
- Tubal damage
- Age > 30 years
What is gestational hypertension
AKA pregnancy induced hypertension
Pregnancy-induced hypertension with onset after 20 weeks’ gestation without proteinuria or end-organ dysfunction
Defined as a systolic blood pressure ≥ 140 mmHg or diastolic blood pressure ≥ 90 mmHg on 2 separate measurements at least 4 hours apart
When hypertension is diagnosed < 20 weeks’ gestation, the diagnosis is chronic hypertension and is not due to pregnancy.
What is pre-eclampsia
New-onset gestational hypertension with proteinuria or end-organ dysfunction
What is superimposed pre-eclampsia
Pre-eclampsia that occurs in a patient with chronic hypertension
What is HELLP syndrome
A life-threatening form of pre-eclampsia characterized by Hemolysis, Elevated Liver enzymes, and Low Platelets
May occur without hypertension or proteinuria
What is gestational trophoblastic disease
Occurrence of new-onset hypertension, proteinuria, or end-organ dysfunction at < 20 weeks gestation
What is eclampsia
A severe form of pre-eclampsia with convulsive seizures and/or coma
WHat is postpartum hypertension
Persistent hypertension after delivery that generally resolves within 12 weeks
If hypertension lasts > 12 weeks postpartum, a secondary cause should be considered.
What mneumonic can be used for remembering pre-eclampsia
The three primary features of PREeclampsia are
- Proteinuria
- Rising blood pressure (hypertension)
- End-organ dysfunction.
How common are hypertensive pregnancy disorders
Hypertensive pregnancy disorders occur in 6–8% of pregnancies.
Preeclampsia: 5–7% of pregnancies
Eclampsia: < 0.1% of all deliveries
HELLP syndrome: 0.5–0.9% of all pregnancies
What are the risk factors for hypertensive pregnancy disorders
General risk factors:
- Thrombophilia (e.g., antiphospholipid syndrome)
- < 20 or > 35 years of age
- African-American descent
- Diabetes mellitus or gestational diabetes
- Chronic hypertension
- Chronic renal disease (e.g., SLE)
- Obesity (BMI ≥ 30)
Pregnancy-related risk factors:
- Nulliparity
- Multiple gestation (e.g., twins)
- Hydatidiform mole
- Previous preeclampsia
- Chromosomal anomalies or congenital structural anomalies
- Family history
What is an unexpected protective factor of pre-eclampsia development
Smoking
What are the clinical features of gestational hypertension
Asymptomatic hypertension Nonspecific symptoms (e.g., morning headaches, fatigue, dizziness) can occur.
What are the clinical features of pre-eclampsia
Preeclampsia without severe features:
- Usually asymptomatic
- Nonspecific symptoms may include:
- Headaches
- Visual disturbances
- RUQ or epigastric pain
- Rapid development of oedema
- Hypertension
- Proteinuria
Preeclampsia with severe features:
- Severe hypertension (systolic BP ≥ 160 mmHg or diastolic BP ≥ 110 mmHg)
- Proteinuria
- Oliguria
- Headache
- Visual disturbances (e.g., blurred vision, scotoma)
- RUQ or epigastric pain
- Pulmonary edema
- Cerebral symptoms (e.g., altered mental status, nausea, vomiting, hyperreflexia, clonus)
What are the clinical features of HELLP syndrome
Onset: most commonly > 27 weeks’ gestation (∼ 30% occur postpartum)
Preeclampsia usually present (∼ 85%)
Nonspecific symptoms: nausea, vomiting, diarrhea
RUQ pain (liver capsule pain; liver hematoma)
Rapid clinical deterioration (DIC, pulmonary edema, acute renal failure, stroke, abruptio placentae)
What are the clinical features of Eclampsia
Onset: The majority of cases occur intrapartum and postpartum.
Most often associated with severe preeclampsia
Eclamptic seizures: generalized tonic-clonic seizures (usually self-limited)
What is DIC
Disseminated intravascular coagulation
A condition characterized by systemic activation of the clotting cascade, platelet consumption, and subsequent exhaustion of clotting factors that leads to widespread thrombosis and hemorrhage.
Often associated with trauma, shock, and sepsis.
What are the warning signs of a potential eclamptic seizure
Deterioration with headaches, RUQ pain, hyperreflexia, and visual changes
What is endometriosis
A common benign and chronic disease in women of reproductive age that is characterised by the occurrence of endometrial tissue outside of the uterus
What is the epidemiology of endometriosis
Age of onset: 20–40 years
Incidence: 2–10% of all women
Ethnicity: In the US, endometriosis is more common in white and Asian women than in black and Hispanic women
What is retrograde menstruation
When a woman’s menstrual flow moves in the wrong direction, so backwards through the fallopian tubes rather than out through the vagina
What is the aetiology of endometriosis
Not fully understood
Retrograde menstruation seems to play a major role in pathogenesis
Other contributing factors:
- Coelomic metaplasia
- Iatrogenic implantation
- Haematogenic and lymphogenic dissemination of endometrial cells
- Hereditary component
What are the common locations of endometriotic implantation
Pelvic organs:
- Ovaries (most common site, often affected bilaterally)
- Rectouterine pouch
- Fallopian tubes
- Bladder
- Cervix
Peritoneum
Extrapelvic organs (less commonly affected):
- Lung
- Diaphragm
How does endometrial tissue act
Regardless of location, it reacts to the hormone cycle, much the same as the endometrium and proliferates under the influence of oestrogen
What results from endometrial implants
Increased production of inflammatory and pain mediators Nerve disfunction Altered anatomy (eg pelvic adhesions) which can lead to infertility
How does endometriosis present
Up to a third of patients are asymptomatic
Chronic pelvic pain that worsens before onset of menses
Uterosacral tenderness, uterosacral nodularity
Dysmenorrhea
Pre-or postmenstrual bleeding
Dyspareunia
Infertility
Dyschezia
What is dyschezia
Painful or difficult defection
How is endometriosis diagnosed
Patient history
Physical exam:
- rectovaginal tenderness
- adnexal masses
Transvaginal ultrasound (best initial test):
- Uterus is generally not enlarged
- Evidence of ovarian (chocolate) cysts
- Nodules in bladder or rectovaginal septum
Laparoscopy (confirmatory test):
-May show endometriotic implants and adhesions
Normally severity of the findings does not correlate with the severity of symptoms
What are the macroscopic findings of endometriosis
Endometrium:
-Endometrial implants that present as yellow-brown (sometimes reddish-blue) blebs, islands, or pinpoint spots
Ovaries:
- Gunshot lesions or powder-burn lesions
- -Black, yellow-brown, or bluish nodules or cystic structures
- -Seen on the serosal surfaces of the ovaries and peritoneum
- Ovarian endometriomas or chocolate cysts: cyst-like structures that contain blood, fluid, and menstrual debris
Fallopian tubes: salpingitis isthmica nodosa
-Nodular tube changes, resulting in:
↑ Risk of sterility and ectopic pregnancy
↓ Transmittance
What are the microscopic findings of endometriosis
Normal endometrial glands
Normal endometrial stroma
Preponderance of hemosiderin laden macrophages due to cyclic hemorrhages into endometriomas
What is adenomyosis
Benign disease characterised by the occurrence of endometiral tissue within the myometrium due to hyperplasia of the endometrial basal layer
What is the the epidemiology of adenomyosis
Peak incidence at 35-50 years
What is the aetiology of adenomyosis
The exact etiology is unknown, though some risk factors have been identified:
- Endometriosis
- Uterine fibroids
- Parity
What are the clinical features of adenomyosis
May be asymptomatic
Dysmenorrhea
Abnormal uterine bleeding
Chronic pelvic pain, aggravated during menses
Globular, uniformly enlarged uterus that is soft but tender on palpation
How is adenomyosis diagnosed
Diagnosis is clinical
May be supported by transvaginal ultrasound and MRI findings:
- Asymmetric myometrial wall thickening
- Myometrial cysts
Histology serves to confirm the diagnosis.
How is adenomyosis treated
Conservative:
- Combined oral contraceptives ,
- Progestin-only contraception (e.g., IUD, continuous-use contraceptive pill)
- NSAIDs for pain relief
- GnRH agonists
Surgical:
- Hysterectomy is the definitive treatment.
- Excision of single, organized adenomyomas.
How is endometriosis treated
Medical therapy:
- Mild to moderate pelvic pain without complications
- Empirical medical therapy with NSAIDs and continuous hormonal contraceptives
- NSAIDs alone if pregnancy is desired
- Synthetic androgens (e.g., danazol)
- Severe symptoms
- GnRH agonists (e.g., buserelin, goserelin) and estrogen-progestin OCPs
Surgical therapy:
- First-line: laparoscopic excision and ablation of endometrial implants
- To confirm the diagnosis and exclude malignancy
- If there is a lack of response to medical therapy
- Treat expanding endometriomas and complications (e.g., bowel/bladder obstruction, rupture of endometrioma, infertility)
- Second-line: open surgery with hysterectomy with or without bilateral salpingo-oophorectomy
- Treatment-resistant symptoms
- No desire to bear additional children
What are the potential complications of endometriosis
Anemia
Endometriosis in the uterotubal junction inhibits implantation of the zygote: ↑ risk of ectopic pregnancy
Endometriosis → fibrous adhesions → strictures and entrapment of organs:
- Intestines: constipation or diarrhea; in rare cases, intestinal obstruction, ileus, or intussusception may occur
- Ureter: urine retention
What are uterine leiomyomas
AKA Fibroids
A benign, hormone-sensitive smooth muscle tumor of the uterus
What are the predisposing factors for fibroids
Nulliparity
Early menarche (< 10 years old)
Age: 25–45 years
-Fibroids are largely found in women of reproductive age
-Influenced by hormones (i.e., estrogen, growth hormone, and progesterone)
-During menopause, hormone levels begin to decrease and leiomyomas begin to shrink
Increased incidence in African American individuals
Obesity
Family history
How are fibroids classified
Leiomyomas are classified according to their location.
Subserosal leiomyoma: located in the outer uterine wall beneath the peritoneal surface
Intramural leiomyoma (most common): growing from within the myometrium wall
Submucosal leiomyoma: located directly below the endometrial layer (uterine mucosa)
Cervical leiomyoma: located in the cervix
Diffuse uterine leiomyomatosis: The uterus is grossly enlarged due to the presence of numerous fibroids.
How do fibroids present clinically
Most women have small, asymptomatic fibroids. Symptoms depend on the number, size, and location of leiomyomas.
Abnormal menstruation:
- hypermenorrhea
- heavy menstrual bleeding
- metrorrhagia (possibly associated anemia)
- dysmenorrhea
Features of mass effect:
- Enlarged, firm and irregular uterus during bimanual pelvic examination
- Back or pelvic pain/discomfort
- Urinary tract or bowel symptoms (e.g., urinary frequency/retention, constipation, features of hydronephrosis)
Reproductive abnormalities
- Infertility (difficulty conceiving and increased risk of miscarriage)
- Dyspareunia
How are fibroids diagnosed
Ultrasound (best initial test)
- Concentric, hypoechoic, heterogeneous tumors
- Calcifications or cystic areas suggest necrosis
- Saline-infused sonography: can be used to better visualize submucosal and intramural fibroids
Hysteroscopy: to assess submucosal fibroids
MRI: to evaluate the uterus and ovaries for potentially complicated surgical cases and visually differentiate between leiomyomas, adenomyomas, and adenomyosis
How do fibroids present in pathology
Macroscopic:
- Grayish-white surface
- Homogeneous; tissue bundles on cross-section partly in a whorled pattern
- Some leiomyomas may involve regressive changes: scar formation, calcification, and cysts
Microscopic:
- Smooth muscle tissue in a whorled pattern with well-demarcated borders
- Consisting of monoclonal cells interspersed with connective tissue
How are fibroids treated
Only treat symptomatic patients
Treatment depends on patient’s desire to preserve fertility, personal preference, comorbidity which contraindicates surgery, and severity of symptoms
Fertility preserving treatments:
Medical:
- First line (to reduce heavy bleeding and symptom management)
- COCP and mini pill (control bleeding and pain but may promote growth of fibroids)
- Mirena coil (controls heavy bleeding but does not treat fibroids themselves)
- Antifibrinolytics (eg tansexamic acid) (reduce heavy bleeding and used when desired no hormonal contraceptives)
- NSAIDs (for dysmenorrhea)
- Second line (to reduce tumor sixe and decrease tumor vascularisation)
- GnRH agonists
- – (optimal prior to surgery but not for long term (>6months) use due to risk of odteoporosis, hot flushes and depression)
- – (decrease size of fibroids)
- – (suppress growth of new ones)
- – (decrease tumor vascularisation)
- – (induce amenorrhea, so improve anaemia)
- – (rebound growth of fibroids after discontinuation of GnRH therapy)
- GnRH antagonists
- Androgenic agonists (suppress growth of fibroids but have high side effect profile (acne, oedema, hair loss etc))
- Selective progesterone receptor modulators
Myomectomy:
Surgical removal of fibroids
-preferred in rapidly growing fibroids, recurrent refactory bleeding secondary to medical therapy and in severe symptoms
-Approach:
– Hysteroscopic myomectomy: submucosal fibroids and some intramural fibroids that are primarily intracavitary
– Abdominal myomectomy (laproscopic or open incision): subserosal and intramural fibroids
Fertility affecting treatments:
Interventional therapy:
- Uterine artery embolization: a percutaneous, radiologic procedure in which an embolic agent is injected into the uterine artery in order to block the blood supply to the fibroid(s)
- Procedure
- – Injection of polyvinyl alcohol (PVA) into the arteries that supply the fibroid, causing it to shrink
- – 25% of patients require further invasive treatment (e.g., hysterectomy) due to failed embolization or recurrent symptoms
- Indications
- – Recurrent refractory heavy bleeding and/or severe pain unresponsive to medical treatment
- – Contraindications to surgery or personal preference to avoid surgery
- – No desire to preserve fertility, but wish to preserve the uterus
-Magnetic resonance-guided focused ultrasound surgery (MRgFUS): a procedure that utilizes MRI and ultrasound waves to destroy fibroids
Surgery: hysterectomy with/without bilateral salpingo-oophorectomy (definitive treatment)
What are potential complications of fibroids
Infertility
Iron deficiency anemia (due to heavy menstrual bleeding)
Fibroid torsion
Thromboembolism
Very rare: malignant transformation to uterine leiomyosarcoma
How are uterine leiomyomas in preganancy
Elevated concentrations of progestin and estrogen foster the growth of leiomyomas.
Pain may be caused by:
- Mass effect
- Necrosis
- Peritoneal irritation
Premature contractions
Depending on location and size:
- Fetal malpresentation
- Fetal growth retardation
- Prematurity and miscarriages
- Extrauterine pregnancy
- Placental abruption
Cervical leiomyoma: obstruction of the birth canal is an indication for cesarean delivery
Postpartum: atonic hemorrhages
Puerperium: fibroid regression accompanied by calcification
What is the epidemiology of ovarian tumors
Ovarian tumors are the most common ovarian mass in women > 55 years of age.
Lifetime prevalence of malignant ovarian cancer: 1–2%
Ovarian cancer is the second most common gynecological cancer (after endometrial cancer) but causes the most deaths (with endometrial cancer causing the second most).
Median age at diagnosis of ovarian cancer: 63 years
Incidence rates highest in non-Hispanic white women
What is the aetiology of ovarian cancer
Risk factors:
General:
- Age: Incidence of ovarian cancer increases with age.
- Asbestos exposure
Genetic predisposition:
- BRCA1/BRCA2 mutation
- The lifetime risk of developing ovarian cancer is up to 44% for BRCA1-positive women and 17% for BRCA2-positive women.
- Positive family history and/or the occurrence of breast cancer at a younger age (i.e. < 30 years) increase the likelihood of carrying a mutation in these genes.
- HNPCC syndrome: The lifetime risk of developing ovarian cancer is ∼ 10%.
- Family history
- Peutz-Jeghers syndrome
Hormonal factors:
- Elevated number of lifetime ovulations
- Infertility/low number of pregnancies
- Early menarche and late menopause
- Endometriosis
Protective factors:
Surgical intervention:
- Bilateral salpingo-oophorectomy
- Hysterectomy
- Tubal ligation
Hormonal factors:
- Oral contraceptives
- Breastfeeding
- Parity
Wat is HNPCC syndrome
Hereditary nonpolyposis colorectal cancer syndrome
AKA Lynch syndrome
A hereditary cancer syndrome caused by a mutation in mismatch repair genes. Individuals have a significantly higher risk of developing colorectal, gastric, and endometrial cancer
What is Peutz jeghers syndrome
An autosomal dominant, hamartomatous polyposis syndrome
Characterized by the presence of polyps (typically < 20) throughout the gastrointestinal tract (mainly the jejunum).
Associated with mutation of the STK11 gene on chromosome 19p13.3. Manifests with hematochezia, constipation, diarrhea, mucocutaneous hyperpigmentation, and an increased risk of colorectal, ovarian, breast, and pancreatic cancer.
How are ovarian tumors classified
Epithelial ovarian tumors
- Arise from ovarian surface epithelium
- Most commonly benign
Germ cell ovarian tumors
- Arise from the primordial germ cells (e.g., oocytes)
- Can be benign or malignant
- Subtypes are determined by structural differentiation
- Extraembryonic differentiation: yolk sac tumor
- Somatic differentiation: teratoma
- No differentiation: dysgerminoma
Sex cord and stromal ovarian tumors
- Arise from sex cord cells (e.g., Sertoli or granulosa cells) or stromal cells (e.g., fibroblasts or primitive gonadal stroma)
- May be benign or malignant
Krukenberg tumor:
- Secondary ovarian tumor that most commonly arises from metastatic spread of gastric carcinoma
- Often bilateral
- Characteristic mucin secreting signet ring cells on histology
- Route of metastatic spread is still debated
How do ovarian cancers present clinically
Traditionally asymptomatic
But ~90% of patients do present with symptoms before diagnosis
Subacute symptoms:
- Most common manifestations
- Nonspecific and difficult to attribute to ovarian cancer
- Adnexal mass
- Can be asymptomatic
- Often found on routine pelvic examination or imaging
- Pelvic and abdominal symptoms
- Changes in urination (e.g., frequency or urgency)
- Bloating/abdominal distention
- Early satiety
- Nonspecific pelvic pain
- Abnormal bleeding
- Postmenopausal bleeding
- Rectal bleeding
- Paraneoplastic syndromes
- Polyneuritis
- Cerebellar degeneration
- Dermatomyositis
- Hemolytic anemia
Acute symptoms:
- Occur in advanced disease
- Indication for immediate evaluation and treatment
- Extrapelvic symptoms
- Ascites
- Malignant pleural effusion
- Bowel obstruction
- Hematologic complications
- venous thromboembolism
- Intrapelvic symptoms
- ovarian torsion
- Metastatic dissemination
- Liver: nausea, jaundice, ascites
- Brain: headaches, seizures, focal motor deficits
- Omentum: omental caking (i.e., disease infiltration of omental fat) resulting in abdominal pain
- Distant lymph nodes: supraclavicular or inguinal lymphadenopathy
How is ovarian cancer diagnosed
Pelvic ultrasound
- Imaging test of choice for evaluation of adnexal masses and suspected ovarian cancer
- Both TA and TV used
- Assess:
- Size and structural characteristics
- Laterality
- Mass margins
- Vascularity
- Pelvic fluid
MRI:
- Not routinely recommended
- May be helpful in determining origin of pelvic masses that are not clearly arising from the ovary
- Useful for assessing feasibiltiy of surgical resection
CT:
- Not recommended in initial evalution of adnexal masses
- Useful for determining th eextent of ovarian mets
Tumor markers:
- Epithelial ovarian tumors: CA-125 is elevated in ~80% of malignant tumors
- In premenopausal: elevated CA-125 points to benign process
- In postmenopausal: elevated CA-125 >35 should raise malignancy concerns
- Should only be used to monitor disease progression or recurrence after treatment
Germ cell tumors:
- Dysgerminoma: LDH, B-hCG
- Yolk sac tumor: AFP
- Immature teratoma: AFP, LDH, CA-125
- Choriocarcinoma: B-hCG
- Embryonal carcinoma: AFP, b-hCG
Sex cord-stromal tumors:
- Granulosa cell tumor: inhibin
- Other types: none
Tissue diagnosis:
- Noninvasive biopsy (fine needle aspiration): not recommended due to the risk of tumor seeding and, as a result, advancing the stage of disease
- Fine needle aspiration is absolutely contraindicated in ovarian tumors because it may directly spread tumor cells to the peritoneum
- Surgical evaluation:
- Recommended method for diagnosing ovarian cancer
- Should only be utilized in patients with a high probability of a malignant ovarian mass
- If a malignancy is found, it can be staged and cytoreduction can be performed
What are the differentials in suspected ovarian cancer
Gynecologic Benign causes: -Ovarian cysts -Pelvic inflammatory disease -Tuboovarian abscess -Hydrosalpinx -Leiomyoma -Endometrioma Malignant cause -metastatic cancer
Nongynecologic Benign causes -Appendiceal abscess -Pelvic kidney -Complicated diverticulitis -Bladder diverticulum Malignant causes -Retroperitoneal sarcoma -Gastrointestinal cancer -Metastatic cancer
How are ovarian tumors treated
Surgical:
For best outcomes
-Surgical staging: used to obtain pathologic specimens and evaluate the extension of cancer spread
– Peritoneal cytology
– Hysterectomy with bilateral salpingo-oophorectomy
– Pelvic and paraaortic lymph node dissection
– Omentectomy
-Surgical debulking: whenever possible, maximal cytoreduction (ie removal of visible tumor) should be completed to imprive long term outcomes
– Residual disease <1cm defines optimal debulking
– Utilised in disease stages 1-3
Chemotherapy: -Indications: -- Early stage disease --- Those with high risk disease (stage 1C, stage 2) --- Only used as adjucant therapy after initial debulking surgery -- Advance stage disease (stages 3-4) --- All patients after initial cytoreductive surgery -Preferred regimens -- Carboplatin/ paclitaxel (first line) -- 5-FU/ oxaliplatin -- Carboplatin/ paclitaxel/ bevacizumab -Route of administration --IV Intraperitoneal
Targeted molecular therapy:
- Indications:
- BRCA1 or BRCA2 postive disease
- Maintenance therapy after surgical debulking and chemotherapy
- Targeted agents: Poly (ADP-ribose) polymerase inhibitors
- Olaparib
- Niraparib
- Veliparib
Radiation therapy:
-Reserved as symptomatic treatment for recurrent or metastatic disease
What is the prognosis for ovarain cancer
Very poor overall prognosis as a result of late diagnosis
5-year survival rate of all stages: ~50%
How is ovarian cancer screened for
Indications:
- Routine screening with CA-125 or transvaginal ultrasound is not recommended in individuals with an average risk of ovarian cancer
- In high-risk individuals:
- familial risk assessment should be performed
- after which genetic counseling and subsequent genetic testing for hereditary cancer syndromes (e.g., BRCA1, BRCA2, or Lynch syndrome) may be indicated.
- – Some of the tools used for familiar risk stratification include the Ontario Family History Assessment Tool, the Manchester Scoring System, the Referral Screening Tool, and the Pedigree Assessment Tool
- In patients with high-risk mutations:
- – Risk-reducing bilateral salpingo-oophorectomy (rrBSO) is a preventive treatment option for patients who do not wish to conceive in the future
- – Periodic screening for ovarian cancer (e.g., annual transvaginal ultrasound, pelvic exam, and CA-125 levels) is an alternative to rrBSO
Potential benefits
- Reduction in mortality
- Diagnosis of ovarian cancer at an earlier stage
Potential harms
- False positives
- Psychological distress
- Morbidity or mortality from surgery
What about ovarian tumor in pregnancy
Pregnancy luteoma
- Definition: rare, benign tumors that arise in response to elevated hormone levels (e.g., β-hCG) during pregnancy
- Clinical features:
- The majority of patients are asymptomatic.
- Occasionally, they are functionally active (i.e., cause androgen hypersecretion) and manifest with symptoms of virilization of the mother or the fetus.
- Diagnostics:
- Pelvic ultrasound
- – Solid adnexal mass
- – Can be unilateral or bilateral
- – Significant venous or arterial flow
- – 4–10 cm in diameter
- Luteomas are often diagnosed incidentally during cesarean delivery.
- Treatment
- Observation
- Most regress spontaneously post partum.
Theca lutein cysts
Corpus luteum cyst
If surgical removal of an ovarian tumor is indicated during pregnancy, surgery should, if possible, be scheduled for after the 10th week of gestation, as the secretion of progesterone by the corpus luteum is essential for the maintenance of the pregnancy. The placenta takes over this function from approximately the 10th week of pregnancy onwards.
What is HPV
Human papilloma virus causes infections of the skin and mucus membranes
There are many strains which result in varying presentations
Double stranded, circular, nonenveloped DNA virus with an icosahedral capsid
Which are the low risk HPV types and what do they cause
Types 6 and 11 Cause: -Anogenital warts -Mild cervical cell abnormalities -Tumors of nongenital mucosal membranes (eg respiratory tract, oral cavity, oesophagus, eye)
What are the high risk HPV types and what can they cause
Types 16, 18, 31, 33
Cause:
-cervical cancer (responsible for 70% of cases)
High risk of anogenital, oral and oropharyngeal squamous cell carcinoma
What do HPV types 1, 2 and 4 cause
Skin warts, such as common warts (verruca vulgaris) and plantar warts (myrmercias)
How is HPV transmitted
Transomission occurs between two epithelial surfaces
Close personal contact: cutaneous warts
Sexual contact: anogenital lesions
What are the risk factors for HPV
Damaged skin/mucous membranes (e.g., maceration, trauma, herpes simplex virus infection)
Immunodeficiency (e.g., HIV infection, chemotherapy)
Additional risk factors for genital/mucosal HPV infections include:
- Unprotected sex
- Number of lifetime sexual partners
- Early age at first sexual activity
- Uncircumcised males
What is the epidemiology of anogenital HPV
Most common sexually transmitted infection (STI)
Approx. 50% of new infections affect individuals between 15–24 years of age.
Prevalence: ∼ 79 million in the US
Incidence: ∼ 14 million annually in the US
What are the genital intraepithelial neoplasms resulting from anogenital HPV
Cervical intraepithelial neoplasia (CIN) and cervical cancer
Vulvar intraepithelial neoplasia (VIN) and vulvar cancer
Vaginal intraepithelial neoplasia (VAIN) and vaginal cancer
Squamous cell carcinoma of the penis
Anal cancer
What are anogenital warts
AKA condylomata acuminata
Pathogen:
HPV types 6 and 11 (responsible for ∼ 90% of genital warts)
Location:
♀: vulvar, cervix, anal region, urethra (rare)
♂: glans penis, foreskin, urethra, anal region
Clinical features
- Exophytic, cauliflower-like lesions
- Often asymptomatic; may cause pruritus, tenderness, or bleeding in rare cases
Diagnostics:
- Visual inspection
- Application of 5% acetic acid turns lesions white (not a specific finding)
- Biopsy indications
- Immunodeficiency (e.g., HIV infection)
- Warts with atypical features (e.g., affixed to underlying tissue, pigmented, indurated, bleeding)
- Warts refractory to treatment
Treatment:
- Pharmacotherapy: local cytostatic treatment (e.g., 5-FU, trichloroacetic acid, podophyllin, salicylic acid) or immune response modifiers (e.g., imiquimod, interferon alpha)
- Cryotherapy: freezing external warts with CO2, N2O, or N2
- In case of numerous warts: curettage, laser surgery, or electrocoagulation
What are flat condylomata
Pathogen: particularly HPV types 3 and 10
Clinical features: flat, white-brown, slightly elevated, scattered plaques in the anogenital region
Differential diagnosis: condylomata lata (usually flat, smooth, and moist) in syphilis
Treatment:
- Curettage or laser surgery
- Regular checks are necessary because of the high risk of malignancy
What are bowenoid papulosis
Description: transitional stage between a genital wart and Bowen disease (a squamous cell carcinoma in situ)
Pathogen: most commonly HPV-16
Clinical features:
Multiple, flat, red-brown pigmented papules on the external genitalia (particularly the penile shaft, glans, foreskin, vulva, and perianal region)
Treatment:
- Re-examination every 3–6 months (lesions often regress spontaneously)
- If persistent:
- local destructive therapy(same as for anogenital warts)
- followed by surveillance (annual examinations), since lesions may recur
Prognosis: malignant transformation occurs in 2.6% of cases
What are giant condylomata
AKA Buschke-Löwenstein tumor
Pathogen: primarily HPV types 6 and 11
Clinical features: exophytic, verrucous, locally invasive squamous cell carcinoma without a tendency to metastasize
Treatment: surgical excision
What is the aetiology of nonanogenital HPV
Most common in infancy, childhood, and adolescence
Prevalence: ∼ 7–12% in the US
Sex: ♀ = ♂
What are common warts
AKA verruca vulgaris
Pathogen: particularly low-risk HPV types 2 and 4
Clinical features
- Lesions are plaques or papules
- Skin-colored or whitish
- Usually firm, often with a rough and scaly surface
- Sometimes have a cauliflower-like appearance
- Located on the elbows, knees, fingers, and/or palms
- Often asymptomatic but may cause tenderness (depending on the location) and pruritus → scratching → bleeding
Treatment
- Initially watchful waiting (most skin warts regress within 2 years)
- Topical agents (e.g., salicylic acid), cryotherapy, or surgical interventions
What are plantar warts
AKA verruca plantaris
Pathogen: HPV type 1
Clinical features:
- Rough, hyperkeratotic lesions on the sole of the foot
- Often grow inwardly and cause pain while walking
What are flat warts
AKA verruca plana
Pathogen: particularly HPV types3 and 10
Clinical features
Multiple small, flat patches or plaques
Localized on the face, hands, and shins
What are nonanogenital mucosal manifestations of HPV
HPV types that cause mucosal manifestations in the genital area may also lead to nonanogenital mucosal manifestations, such as:
- Oral warts and oropharyngeal carcinomas
- Laryngeal papilloma: benign tumor of the laryngeal epithelium caused by HPV infection of the throat
- Associated with HPV type 6 and 11
- Appear as white, exophytic cauliflower-like lesions located in the larynx, trachea, and on the vocal cords
- Usually single lesions in adults and multiple in children
- Can cause voice changes (e.g., hoarseness) and, in more severe cases, airway obstruction
- Laryngeal carcinoma
- Respiratory papillomatosis and squamous cell carcinoma (SCC) of the lung
- Conjunctival papillomas and conjunctival carcinoma
What are the differentials for suspected HPV lesions
Benign tumors, e.g., fibroids, papillomatous dermal nevi
Molluscum contagiosum
Malignant tumors, particularly squamous cell carcinomas
How is HPV treated
There is no treatment for the infection itself.
In most cases the infection clears up without any treatment
Several factors guide the choice of the treatment of anogenital warts, including wart characteristics (i.e., size, number, and anatomic site), patient preference, and potential adverse effects.
Treatment options of HPV–related anogenital warts are:
- Routine clinical monitoring
- Local treatment with one of the following:
- Podophyllotoxin
- Imiquimod
- – Toll-like receptor 7 agonist; activates immune cells
- – Indications include actinic keratoses, superficial basal cell carcinomas, herpes simplex infections, and genital warts.
- Trichloroacetic acid
- Cryotherapy
- Surgical removal (e.g., tangential scissor, shave excision, curettage, laser, electrosurgery)
Evidence of malignancy should always be excluded on HPV–related cervical lesions via cytological and histological monitoring.
For treatment options of HPV–related cervical lesions, see cervical cancer treatment
What is the prognosis in HPV infection
High rate of recurrence
Infection with high-risk types may transition to precancerous or malignant lesions after several years
How can HPV infection be prevented
Education about risk factors
HPV vaccination
Use of condoms (decrease risk of infection but do not provide full protection as uncovered areas may still be infected
What is the relvance of HPV in pregnancy
Vertical transmission to the fetus is rare but may lead to:
- Laryngeal papillomatosis → airway obstruction
- Conjunctival papillomatosis
Treatment/prevention:
- Vaccination should be avoided during pregnancy.
- Trichloroacetic acid is preferred
- Cryotherapy and surgical interventions are also safe.
- Podophyllin, 5-FU, and interferon are teratogenic and contraindicated in pregnancy.
Delivery:
- Cesarean section does not prevent vertical transmission of HPV.
- Cesarean section is indicated only if the birth canal is obstructed by large genital warts.
What is the epidemiology of cervical cancer
3rd most common gynae malignancy after endometrial and ovarian and 3rd most common one to cause death
Incidence is higher in countries without screening programs and HPV vaccination
Incidence has declined in. recent times due to screening and vaccine
Peak incidence 35-44 years
Mortality is highest in those aged 55-64
Cervical intraepithelial neoplasia (CIN), a precursor of cervical cancer, typically occurs in young adults (aged 25-35 years)
What is the aetiology of cervical cancer
Infection with high risk HPV types:
- HPV 16: most common in squamous cell carcinoma
- HPV 18: most common in adenocarcinoma
Risk factors:
Associated with HPV infection:
- Multiple sexual partners (strongest risk factor)
- Early-onset of sexual activity
- Multiparity
- Immunosuppression (e.g., HIV infection, post-transplantation)
- History of sexually transmitted infections (e.g., herpes simplex, chlamydia)
Environmental risk factors:
- Cigarette smoking and/or exposure to second-hand smoke (for squamous cell cancer types only)
- In-utero exposure to diethylstilbestrol (DES)
- Low socioeconomic status
What are the clinical features of cervical cancer
Patients are usually asymptomatic in the early stages and develop symptoms later in the course of the disease.
Always consider cervical cancer as a cause of postcoital bleeding
Early symptoms:
- Abnormal vaginal bleeding: irregular vaginal bleeding, heavy, irregular menstrual bleeding, postcoital spotting
- Abnormal vaginal discharge: blood-stained or purulent malodorous discharge (not necessarily accompanied by pruritus)
- Dyspareunia
- Pelvic pain
Late symptoms:
- Hydronephrosis
- Lymphedema
- Fistula formation
Cervical examination:
- Ulceration
- induration
- or an exophytic tumor
What are the potential complications of cervical cancer
Direct complications of invasive cervical cancer:
- Local infiltration of organs
- Infiltration and compression of ureter → urinary obstruction → hydronephrosis → kidney failure (bilateral obstruction is a potentially fatal complication)
- Other organs often affected by the spread of cervical cancer include the rectum, bladder, and vagina.
- Fistula formation in locally advanced disease (e.g., rectovaginal, vesicovaginal, urethrovaginal fistula)
- Compression of veins or lymphatic vessels in the lesser pelvis → lymphedema of the lower extremities
- Metastasis
- Bone metastasis: bone pain, pathologic fractures, spinal compression, hypercalcemia
- Liver metastasis: abdominal pain, abdominal distention, nausea, jaundice
- Lung metastasis: cough, hemoptysis, dyspnea, chest pain
- Brain metastasis: headaches, seizures, cognitive deficits, focal neurological deficits
- Cancer anorexia-cachexia syndrome (CACS)
Complications of radiation therapy:
- Vaginal stenosis
- Postirradiation vaginitis (e.g., vaginal dryness, dyspareunia)
- Radiogenic cystitis/proctitis
- Radiation may increase the risk of cancer complications such as fistula formation
What is the prognosis of cervical cancer
Cervical cancer has the best prognosis out of the three main gynecological cancers (ovarian, endometrial, and cervical cancer).
The survival rates decrease with increasing FIGO stage: Stage 0: > 93% Stage I: 93% Stage II: 63% Stage III: 35% Stage IV: 16%
Patients without lymph node involvement have a very good prognosis, regardless of FIGO stage.
Main cause of death: uremia, often occurs secondary to bilateral ureteral obstruction.
What are the types of endometrial cancer
Type I endometrial cancer: endometrioid adenocarcinomas (grade 1 and 2) derived from atypical endometrial hyperplasia
Type II endometrial cancer: endometrioid adenocarcinomas (grade 3) and tumors of nonendometrioid histology (serous, clear cell, mucinous, squamous, transitional, and undifferentiated cells)
What is the aetiology of endometrial cancer
Type I endometrial cancer
- Directly related to long-term exposure to increased estrogen levels
- Some genetic mutations (e.g., in the PTEN gene or mismatch repair genes) are also associated with this type of cancer.
Type II endometrial cancer
- Mostly estrogen-independent
- Associated with endometrial atrophy (especially in postmenopausal women)
- Strongly associated with a genetic predisposition
Risk factors for estrogen-dependent tumors
- Nulliparity
- Early menarche and late menopause
- Polycystic ovary syndrome
- Metabolic syndrome (esp. obesity and diabetes mellitus type 2 )
- Hypertension
- Unopposed estrogen replacement therapy (e.g., for menopausal symptoms)
- History of breast cancer and tamoxifen treatment
- Lynch syndrome (hereditary nonpolyposis colorectal cancer)
Protective factors: Low estrogen and high progestin or progesterone levels have a protective effect. -Multiparity -Combination oral contraceptive pills -Regular physical exercise -Lifelong soy-rich diet
What is the epidemiology of endometrial cancer
1-2% of population Most common cancer of female genital tract Fourth most common cancer in women (after breast, lung and colorectal) Type 1 ~80% of endometrial cancers Type 2 ~10-20% of cases Primarily affects postmenopausal women Peak incidence 65-74 years Type 1 onset usually nearer to menopause Type 2 usually in older ladies
How does endometrial cancer present clinically
Tumor-related:
Abnormal uterine bleeding is the main symptom.
-Postmenopausal: any amount of vaginal bleeding, including spotting or staining
-Perimenopausal/premenopausal: metrorrhagia, menometrorrhagia
-Vaginal bleeding usually does not occur in type II cancer.
Later stages may present with pelvic pain, palpable abdominal mass, and/or weight loss.
Pelvic exam is often normal, Possible findings include:
-Abnormal cervix
-Enlarged uterus
-Evidence of local metastases
Metastases:
- Localized metastasis: contiguous spread to the cervix and vagina, fallopian tubes, and ovaries (25% of cases)
- Lymphogenic metastasis: Seen in late stage cases
- Retroperitoneal spread, or involvement of the pelvic and/or para-aortic lymph nodes
- Hematogenic metastasis:
- Rare
- Occurs at a very late stage and usually in the lungs
How is endometrial cancer diagnosed
Procedures:
- Endometrial sampling: most commonly performed as part of a pelvic exam
- Hysteroscopy-guided biopsy
- Dilatation and curettage
Results:
- Endometrial hyperplasia, with or without atypia
- Pronounced proliferation of disorganized glandular tissue (characteristic of endometrial adenocarcinoma)
- If there is no detectable pathology on biopsy and if no further symptoms occur, endometrial cancer can be ruled out.
Imaging:
Transvaginal ultrasonography
- Considered to be the first diagnostic step by some experts since it is noninvasive and enables initial assessment
- Findings:
- Thickening of the endometrium
- Cystic changes, variable echogenicity
- Possibly visible tumor infiltration into neighboring organs
- Regular monitoring required in postmenopausal women with endometrial thickening ≥ 5 mm
Abdominal ultrasonography:
-A complete abdominal ultrasound is indicated to exclude metastasis.
Chest x-ray, CT, MRI:
-assessment of metastatic spread (lungs, pelvis)
Laboratory tests:
FBC - anaemia
Coagulation studies to assess for other possible causes of heavy uterine bleeding
Ther is no routine screening test for endometrial cancer
What is an endometrioid adenocarcinoma
Prevalence: most frequent form of endometrial cancer
Types:
- Type I endometrial carcinoma includes estrogen-dependent endometrioid adenocarcinoma (grade 1 and 2; the most common)
- Type II endometrial carcinoma includes estrogen-independent endometrioid adenocarcinoma (grade 3; rare, poor prognosis)
Histology findings:
- Pronounced glandular proliferation, which presents as atypical glandular tubes
- The glands are positioned, in part, back-to-back (“dos-à-dos”) with no separating stroma
- Lined with pseudostratified epithelial cells, the nuclei of which are enlarged in an atypical vesicular form.
- These glandular cells frequently demonstrate mitosis.
- Tumor cell nests may also be observed and infiltrate the myometrium in high-grade tumors.
What are the tumors of nonendometrioid histology in endometrial cancer
Serous adenocarcinoma (contains psammoma bodies and papillary structure with tufts)
Clear cell adenocarcinoma
Mucinous adenocarcinoma
Squamous cell carcinoma
Undifferentiated carcinoma
How is endometrial cancer treated
Surgical management:
- Indication: women with endometrial cancer who are postmenopausal, perimenopausal, or do not intend to become pregnant
- Procedures:
- Total hysterectomy with bilateral salpingo-oophorectomy (TAH/BSO) with or without lymph node removal
- Advanced radical hysterectomy and removal of the upper vagina according to Wertheim-Meigs additional
Nonsurgical management:
- Progestins: Indicated for women with early stage endometrial carcinoma (well-differentiated and progesterone and estrogen receptor positive), who would prefer to avoid TAH-BSO and preserve fertility, or as adjuvant therapy
- Radiotherapy and/or chemotherapy (adjuvant or palliative)
What is a potential complication of endometrial cancer
Pyometra:
- An accumulation of pus in the uterine cavity
- Caused by infection resulting from obstruction of the cervical opening by the tumor and secondary blood stasis (hematometra)
- Can develop in patients with duplication of the cervix or as an uncommon complication of gynecological malignancy
- Presented with purulent vaginal discharge, lower abdominal pain, and enlarged uterus
- Diagnosed by imaging studies (e.g., abdominal ultrasound or CT scan)
- Treated with drainage and dilation of the cervical lumen
What is the prognosis of endometrial cancer
Endometrial cancer has the 2nd best prognosis (after cervical cancer) of all gynecological cancers in the US.
Cancer stage at diagnosis determines the 5-year survival rate:
- Localized endometrial carcinoma: > 90 %
- Metastasized endometrial cancer: 16.8 %
Death rate: 4.9 per 100,000 women per year
Types of endometrial carcinomas that are well-differentiated and possess estrogen receptors (type I) have a more favorable prognosis.
Clear cell and papillary serous carcinomas (type II) have an aggressive course and a poor prognosis.
How can the prognoses of gynaecological cancers be remembered
Think of a CEOs decline
Cervical, Endometrial, Ovarian have a progressively worse prognosis
What is vulvar cancer
A malignancy of the outer female genitalia
What is vaginal cancer
Malignancy that is closely related to vulvar cancer in terms of aetiology and histology but it occurs inside the vagina, typically the posterior third of the vaginal wall, rather than the vulva
What is the epidemiology of vulvar cancer
Incidence: rare
Age:
-HPV-related vulvar cancer: 35–65 years
-Non-HPV related types: 55–85 years
What is the aetiology of vulvar cancer
Infection with HPV 16, 18, 31, and 33 (16 and 33 account for 55% of HPV-related cases of vulvar cancer)
Vulvar dystrophy and vulvar or cervical intraepithelial neoplasia (VIN/CIN)
Smoking
Precancerous lesions (e.g., lichen sclerosus)
Immunosuppression
What are the classifications of vulvar cancer
Squamous cell carcinoma (> 80% of cases)
Basal cell carcinoma
Melanoma
Paget disease of the vulva
What is paget disease of the vulva
Pathology
- Adenocarcinoma; carcinoma in situ
- Low risk (< 15%) of underlying invasive Paget disease/ invasive adenocarcinoma (unlike Paget disease of the breast which is always associated with underlying carcinoma)
Clinical features
- Eczematoid lesions
- Raised, well-demarcated borders
- Erythematous patches with white scaling
- Crusting and ulcerations
- Local pruritus
What are the clincial features of vulvar cancer
May initially be asymptomatic
Local pruritus, possibly with burning sensation and pain
Reddish, blackish, and/or whitish patches of discoloration
Lumps or growths of various shapes, often wart-like lesions or ulcers
Vulvar bleeding or discharge (less common)
Dysuria, dyspareunia
Lymphadenopathy in the groin area
How is vulvar cancer diagnosed
Pelvic exam
Colposcopy
Biopsy
What are the differential for suspected vulvar cancer
Vulvar dermatoses
Vulvar intraepithelial neoplasia
What are vulvar dermatoses
Vulvar dermatoses are not inherently precancerous, but they do increase the risk of squamous cell carcinoma.
Subtypes:
- Lichen sclerosus: epidermal atrophy and loss of vulvar architecture
- Lichen simplex chronicus: squamous cell hyperplasia
- Genital lichen planus (hypertrophied skin with purple lesions)
Etiology: unclear
Epidemiology:
-postmenopausal women and, less commonly, prepubescent girls
Clinical features:
- Parchment-like, thin, shiny vulvar skin
- Narrow, atrophic vaginal introitus resulting in dyspareunia
- Burning pain, pruritus, bleeding vulvar ulcers
- Lichen simplex chronicus is characterized by chronic pruritus, which provokes persistent scratching of the vulva and so causes lichenification of the skin.
Diagnosis: Colposcopy and biopsy of suspicious lesions are required to rule out malignancy.
Histology
- Epidermal atrophy, localized hyperkeratosis, degeneration of the basement membrane
- Loss of collagenous and elastic connective tissue
- Presence of an inflammatory infiltrate
Therapy
- Without atypical cellular morphology: local therapy with glucocorticoid-containing creams
- In the event of malignancy: surgical resection of the lesion
What is vulvar intraepithelial neoplasia (VIN)
Definition: precancerous lesion caused by dysplasia of squamous cells
Classification:
- VIN, usual type (most common)
- Associated with HPV
- Commonly multifocal
- VIN, differentiated type
- Associated with lichen sclerosis and other dermatoses
- Commonly unifocal
- VIN, unclassified type
Diagnosis: tissue biopsy
Treatment: depending on severity, excision or ablation may become necessary
Prognosis: may progress to vulvar carcinoma despite treatment (in < 10% of cases)
How is vulvar cancer treated
First-line treatment: local excision and surgical resection (radical vulvectomy)
Radiotherapy and/or palliative chemotherapy: when disease metastasizes to peripheral lymph nodes or other organs
What is the prognosis of vulvar cacner
The average 5-year survival rates range from 30–50%.
Survival rates vary greatly depending on the stage of the disease.
What are the subtypes of vaginal cancer
Squamous cell carcinoma
- Most common type
- Usually occurs secondary to cervical squamous cell carcinoma, primary carcinoma is rare
Clear cell adenocarcinoma
- Usually occurs secondary to vaginal adenosis (the presence of glandular columnar epithelium within the upper two-thirds of the vaginal wall)
- Seen in daughters of women who received diethylstilbestrol during pregnancy
Sarcoma botryoides
- Rare, highly malignant embryonal rhabdomyosarcoma that arises most commonly, but not exclusively in the genitourinary system
- Epidemiology: peak incidence in childhood (< 4 years)
- Pathology
- Gross: clear, polypoid masses that resemble a bunch of grapes protruding through the vagina
- Microscopy: pleomorphic spindle-shaped cells
- Immunohistochemical staining: desmin positive
What are the symptoms of vaginal cancer
Vaginal bleeding
Leukoplakia, vaginal ulceration with contact bleeding
Malodorous discharge
Possibly urinary frequency
How is vaginal cancer diagnosed
Pelvic exam
Colposcopy: if abnormal cytology results without a clearly visible lesion during peliv exam
Biopsy of mass to determine histopathology
How is vaginal cancer treated
Radiotherapy
- Indicated in squamous cell carcinomas
- Preserves external genitalia
Surgical therapy
What is meant by “failure rate with typical use” when discussing contraceptives
The number out of every 100 women who become pregnant within the first year of typical use of the method of contraception
What is the pearl index when discussing contraception
The number of unintended pregnnacies in 100 women per year with perfect use of the method of contraception
The PI is the most common measure of contraceptive efficacy used in clinical studies
What are the behavioural methods of contraception
Coitus interruptus
Fertility awareness base methods
Vaginal douche
Lactational amenorrhea
What is coitus interruptus
AKA the withdrawal method
Method: penis is withdrawn from the vagina before ejaculation
~22% failure rate
What are fetility awareness based methods of contraception
Avoidal of sexual intercourse during the ovulation period
Calendar method:
- The fertility period is estimated by documenting the timing of ovulation
- Based on 3 points:
- (i) an egg can be fertilized for ∼ 24 hours after ovulation
- (ii) the lifespan of sperm is 48 hours following ejaculation
- (iii) ovulation occurs 12–16 days before onset of the next menses.
- Fertilization can occur anytime from 3 days before to 1 day after ovulation.
- The fertility period is calculated after recording 6 menstrual cycles
Cervical mucus method:
- The fertility period is estimated by evaluating the abundance and consistency of cervical mucus throughout the cycle.
- During the days leading to ovulation, cervical mucus becomes stringy/elastic, thick, and abundant due to an increase in progesterone.
- Conception is more probable up to 4 days after cervical mucus reaches its maximum abundance and elasticity; intercourse should be avoided during this time.
- Contraindicated in:
- breastfeeding women < 6 weeks postpartum
- non-breastfeeding women < 4 weeks postpartum
- in women with irregular menstrual cycles
Basal body temperature method:
- The body temperature is measured throughout the cycle.
- The increase in progesterone concentration after ovulation triggers an increase in basal body temperature, thus indicating the fertility period.
Symptothermal method:
-Including a combination of the basal body temperature method and the cervical mucus method
What is vaginal douche method of contraception
Unreliable method of contraception, although still practiced by over 20% of women in the US.
Not a recommended form of contraception, but many women in the US still have this misconception
Risk of promoting unintentional pregnancy by pushing semen into the cervical canal
Method: The vagina is flushed with water or other products immediately after male ejaculation during intercourse in an attempt to theoretically flush semen out
What is the lactational amenorrhea method of contraception
Amenorrhea is induced by exclusively breastfeeding for up to 6 months immediately postpartum
Method
Suckling at the breast → ↑ prolactin and ↓ gonadotropin-releasing hormone → suppression of ovulation
FSH levels are normal/high → follicle growth; however, ↓ LH leads to inhibited follicular maturation and the absent LH surge prevents ovulation
What is the nonhormonal copper intrauterine device
A T-shaped device wrapped in copper wire that is inserted into the uterus
Approved for 5 or 10 years of continuous use; may be effective for longer
Mechanism of action: altered tubal motility and a sterile inflammatory reaction of the endometrium → spermicidal effect and prevention of implantation
Indications:
- Emergency contraception (most effective type)
- Long-acting contraception
- Contraception in patients with contraindications for estrogen-based contraceptives
Contraindications:
- Uterine abnormalities (i.e. bleeding, malignancy, infection, abnormal anatomy)
- Cervical infections
- Known or suspected pregnancy
- Menorrhagia
- Dysmenorrhea
- Copper hypersensitivity
Complications:
- Menorrhagia
- Dysmenorrhea
- Uterine perforation
- Ectopic pregnancy
- Pelvic inflammatory disease
What are the barrier methods of contraception
Condom Diaphragm Cervical cap Sponge Spermicide
What are condoms
Description:
A thin sheath that is placed over the shaft of the penis (male condom) or in the vaginal canal (female condom) prior to sexual intercourse
Acts as a physical barrier between penile, vaginal, and/or anal secretions
Contraindication: latex allergy for latex condoms
Complications: unintentional pregnancy or infection due to breakage (usually related to incorrect use)
What is a diaphragm contraceptive
Description:
Dome-shaped latex, metal, or plastic device that holds spermicide
Placed into the anterior and posterior fornix of the vagina prior to sexual intercourse; must be kept in place for 6 hours after intercourse
Prevents passage of semen into the cervix
Contraindications: cervical anomalies or abnormalities (e.g., infection, malignancy), spermicide or latex allergy
Complication: toxic shock syndrome (use for ≥ 24 hours is not recommended)
What is a cervical cap
Description:
Cup shaped latex, metal, or plastic device that holds spermicide
Placed over the base of the cervix; inserted up to ∼ 8 hours before sexual intercourse and must be removed after 48 hours
Prevents passage of semen into the cervical canal
Contraindications:
- cervical anomalies or abnormalities,
- spermicide or latex allergy
Complication: toxic shock syndrome,
-cervical erosion (resulting in spotting)
WHat is the sponge method of contraception
Description:
Foam disk containing spermicidal fluid; activated by moistening with tap water and gently squeezing before inserting into the vagina
Inserted up to 24 hours before intercourse; should not be worn > 30 hours
Prevents entry of semen into the cervix and has spermicidal effects
Contraindications:
- cervical anomalies or abnormalities,
- spermicide allergy
Complication: vaginal irritation,
-toxic shock syndrome (rare)
What is the spermicide method of contraception
Description:
Foams or jellies that are inserted into the vagina prior to sexual intercourse
The active ingredient disrupts surface membranes → spermicidal effect
Contraindication: spermicide allergy
Complication: vaginal irritation
WHat are the surgical sterilisation methods
Female sterilization:
Description: surgical interruption of the fallopian tubes
Methods:
- Tubal ligation with or without partial salpingectomy
- Partial destruction of oviduct with electrocoagulation
- Clipping or banding of the fallopian tubes
Can be performed under neuraxial or general anesthesia
Vasectomy:
Description: division and removal of a section of the vas deferens
Can be performed under local anesthesia
Complications:
- Hematoma
- Surgical site infection
- Sperm granulomas: a collection of sperm due to leakage from the vas deferens into the surrounding interstitium
- Postvasectomy pain syndrome
- A condition characterized by a chronic, dull, aching pain in the testes in patients who have had a vasectomy
- Caused by the accumulation of testicular fluid in the epididymis
- Failure
- Patients should be counseled about potential post-vasectomy pregnancies (approx. 1 in 2,000 cases)
- Follow-up sperm sample test at three months after surgery to verify azoospermia
What is the definition of infertility and what are the two types
Inability to achieve pregnancy after 12 months of unprotected sex in women < 35 years and 6 months in women ≥ 35 years of age
Primary infertility: infertility in persons who have never achieved pregnancy
Secondary infertility: infertility in persons who have previously achieved at least one pregnancy
What is the definition of recurrent pregnancy loss
The inability of a woman to carry to live birth even if conception is possible (e.g., due to uterine myomas, antiphospholipid syndrome)
What is the epidemiology of infertility
Infertility affects approx. 10–15% of couples of reproductive age
Approx. 5% of women in the US aged 15–44 years old are infertile
Approx. 5–10% of men in the US aged 15–44 years old are infertile
What is the aetiology of female infertility
Ovary-related causes:
- Premature ovarian failure
- Menstrual cycle abnormalities (e.g., functional hypothalamic amenorrhea)
- Hyperprolactinemia
- Thyroid disorders
- Systematic conditions:
- diabetes mellitus
- hypertension
- obesity
- chronic diseases (e.g., hepatic or renal)
- Pituitary adenoma
- Diminished ovarian reserve
- A decline in functioning oocytes (either reduced number or impaired development)
- A normal consequence of age, but can also be caused by an underlying disorder (e.g., endometriosis)
- Hypogonadotropic hypogonadism
- Cushing syndrome
- PCOS
Tubal/pelvic causes
- PID
- Endometriosis
- Fallopian tube adhesions and/or obstruction
- Following tubal or pelvic surgery
- Following infections:
- – appendicitis
- – chronic chlamydia infection
- – acute salpingitis
- – inflammatory bowel disease
Uterine causes:
- Anatomical anomalies (e.g., septate uterus, bicornuate uterus, Mayer‑Rokitansky-Kuster‑Hauser syndrome)
- Uterine leiomyoma
- Endometrial polyps
- Asherman syndrome
- Mostly iatrogenic (scarring, fibrosis, and/or adhesions of the endometrium caused by curettage)
- Reduces the sensitivity of the endometrium to progestogens
Cervical causes:
-Cervical anomalies (e.g., insufficient cervical mucus production)
-Trauma (e.g., following cryotherapy, conization)
Immune factors (e.g., antisperm antibodies in the cervical mucus)
-DES exposure in utero
Psychiatric causes:
- Vaginismus
- Sexual arousal disorder
What is the aetiology of male infertility
Sperm disorders (e.g., reduced sperm count, impaired motility, reduced ejaculate volume)
Testicular damage (e.g., scrotal injuries, testicular torsion, infections such as mumps, gonorrhea)
Scrotal hyperthermia (varicocele)
Medication (e.g., anabolic steroids, spironolactone, corticosteroids, cimetidine)
Thyroid disorders
Chronic diseases (e.g., liver cirrhosis, renal insufficiency)
Inherited disorders
- Klinefelter syndrome
- Kallmann syndrome
- Often associated with structural/developmental abnormalities:
- – cryptorchidism
- – cleft palate
- – scoliosis
- – renal agenesis
- Characterized by delayed onset of puberty and hyposmia/anosmia
- More common in men
Sexual dysfunction (e.g., impaired libido, anejaculation)
Pituitary and hypothalamic tumors
Hyperprolactinemia
Cryptorchidism
How is female infertility diagnosed
Medical history of both partners, especially gynecological history
Assess ovulatory function
- Menstrual history
- Body temperature analysis to monitor menstrual cycle
- Hormone tests (between the 3rd and 5th day of the menstrual cycle )
- Midluteal serum progesterone levels: progesterone should increase shortly after ovulation → failure of progesterone levels to rise indicates anovulation
- Ovulation prediction test (detect LH levels)
- Androgen levels: elevated levels induce negative feedback to the hypothalamus → inhibition GnRH secretion → decreased estrogen levels and suppression of ovulation
- Ovarian reserve
- – Early follicular FSH levels: elevated in ovarian insufficiency and indicate reduced ovarian reserve
- – Early follicular estradiol levels
- – Anti-Müllerian hormone levels
- TSH levels: elevated levels in hypothyroidism
- Prolactin levels: hyperprolactinemia
- Ovarian sonography: antral follicle count
- Endometrial biopsy
- Usually performed 1–3 days before menstruation to determine thickness of endometrium
- A flat endometrial lining indicates a defect in the luteal phase of the menstrual cycle.
Imaging: assess the patency of fallopian tubes and uterus
- Indications:
- If the initial workup does not reveal any abnormalities and no history suggestive of tubal obstruction
- Screen for tubal occlusion and structural uterine abnormalities (e.g., septate uterus, submucous fibroids, intrauterine adhesions)
- Hysterosalpingography: an imaging technique involving the injection of contrast dye into the cervical canal and serial radiographs to evaluate the uterine cavity and morphology/patency of the fallopian tubes
- Sonohysterosalpingography: an ultrasound technique in which fluid is inserted into the uterus via the cervix to examine the uterine lining
- Hysteroscopy and/or laparoscopy
- Indicated if there is evidence of intrauterine abnormalities or tubal occlusion.
- Can also be used therapeutically to remove small adhesions or mucous plugs obstructing the tubal lumen
Examine cervix:
- Physical examination
- Pap smear
- Testing for antisperm antibodies in cervical mucus
How is female infertility treated
Lifestyle modifications: cessation of alcohol, nicotine, and recreational drug use as they contribute to subfertility.
Treatment of underlying causes: (e.g., levothyroxine for hypothyroidism, bromocriptine for hyperprolactinemia, metformin for PCOS) [10]
Ovulation induction
- Clomiphene citrate
- GnRH (pulsatile): stimulation of FSH and LH release → follicle maturation
- Gonadotropins (e.g., recombinant hCG, recombinant LH): stimulate final oocyte maturation → ovulation
- Tamoxifen (selective estrogen receptor modulator)
- GnRH-antagonists
Assisted reproductive technology:
- In vitro fertilization
- The most common form of assisted reproduction technology
- Involves hormonal follicular stimulation followed by a transvaginal follicular puncture for oocyte retrieval with ultrasound monitoring
- The recovered oocytes are mixed with processed spermatozoa and incubated.
- Two (in young women) to a maximum of five embryos (in women over 40 years of age) are transferred into the uterus.
- Intracytoplasmic sperm injection: a type of assisted reproductive technology, in which a single spermatozoon is introduced into an oocyte under a microscope using an injection pipette
Intrauterine insemination (IUI): a procedure in which washed and concentrated sperm are introduced directly into the uterine cavity
Oocyte donation
Surgery: removal of tubal, cervical, or uterine adhesions, myomas, and/or scar tissue
What is ovarian hyperstimulation syndrome
A potentially life-threatening complication of ovulation induction with exogenous human chorionic gonadotropin (hCG)
What is the pathophysiology of ovarian hyperstimulation syndrome
Exogenous hCG is thought to be responsible for the massive luteinization of the ovarian granulosa cells.
Formation of multiple ovarian follicles and corpus luteum cysts with rapid ovarian enlargement
↑ Release of vasoactive mediators (e.g., VEGF) that induce an increase in capillary permeability and consequent third spacing into the abdominal cavity
What are the clinical features of ovarian hyperstimulation syndrome
Onset: between 3 days (early onset) and ≥ 9 days (late onset) after hCG administration
Abdominal pain and distention Nausea and/or vomiting Weight gain Severe features Pleural effusion Acute kidney injury with oliguria/anuria Venous or arterial thromboembolic events
How is ovarian hyperstimulation syndrome diagnosed
Laboratory analysis:
- Leukocytosis, ↑ Hct
- Serum electrolyte concentrations and renal function tests
- Liver function tests
Transvaginal ultrasound: ascites and ovarian enlargement
How is ovarian hyperstimulation syndrome managed
Mild and moderate cases (usually early onset): manage on an outpatient basis:
- Limit physical activity
- Pain management with acetaminophen
- Daily monitoring of body weight (should not increase by > 1 kg/day) and urine output
- Sufficient hydration (1–2 L/day)
- Paracentesis to relieve symptoms of ascites
Severe cases (usually late onset)
- Hospitalization
- Multidisciplinary management approach:
- supportive care
- monitoring
- prevention of complications (e.g., prophylactic anticoagulation)
How is male infertility diagnosed
Medical history of both partners
Semen analysis
Mixed antiglobulin reaction test for antisperm antibodies
- Antisperm antibodies form in disruption of the blood-testis barrier (composed of Sertoli cell tight-junctions)
- The antibodies can lead to immobilization and agglutination of sperm or have a spermatotoxic effect.
TSH levels
Prolactin levels
Karyotype test (Kallmann syndrome, Klinefelter syndrome)
How is male infertility treated
Treatment of underlying cause
Modification of lifestyle factors such as alcohol, nicotine, and recreational drug use
Medical therapy: clomiphene citrate, tamoxifen
Assisted reproductive technology
- Intrauterine insemination
- In vitro fertilization
- Intracytoplasmic sperm injection
Surgical treatment of testicular anomalies and/or defects
How is fibrocystic breast change diagnosed
Physical exam
Ultrasound and mammogram (first-line)
- Ultrasound:
- Findings range from normal appearance to focal regions of thick parenchyma.
- Сysts may be present.
- Mammogram (not recommended for women < 30 years):
- Round or oval masses with clear borders
- In some cases, dispersed calcifications
Fine-needle aspiration (after imaging confirms a cystic lesion): indicated if the patient is symptomatic and/or requests the procedure
Biopsy: confirms diagnosis if imaging is inconclusive
How is fibrocystic breast change treated
If symptoms are mild, treatment is not required.
In case of severe symptoms:
- oral contraceptives
- tamoxifen
- progesterone
Fine-needle aspiration or surgery:
- If a cyst causes severe pain, discomfort, or disfiguration
- In the case of proliferative lesions with atypical cells
Reevaluate the cyst after 4–6 weeks.
What is the fibrocystic breast change prognosis
Depends on the histologic subtype:
- Nonproliferative lesions do not increase the risk of cancer.
- Proliferative lesions with atypical cells (e.g., ductal epithelial hyperplasia) are associated with an increased risk of cancer
What is mastitis
Inflammation of the breast parenchyma
What is the aetiology of mastitis
Staphylococcus aureus (most common) Other pathogens (e.g., Streptococcus, Escherichia coli) are rare.
What is the epidemiology of mastitis
Occurs in up to 10% of nursing mothers (2-4 weeks postpartum)
What is the pathophysiology of mastitis
Nipple fissures facilitate the entry of bacteria located in the nostril and throat of the infant or on the skin of the mother into the milk ducts during breastfeeding.
Prolonged breast engorgement (due to overproduction of milk ) or insufficient drainage of milk (e.g., due to infrequent feeding, quick weaning, illness in either the baby or mother) result in milk stasis, which creates favorable conditions for bacterial growth within the lactiferous ducts.
What are the clinical features of mastitis
Tender, firm, swollen, erythematous breast (generally unilateral)
Pain during breastfeeding
Reduced milk secretion
Flu-like symptoms, malaise, fever, and chills
In some cases, reactive lymphadenopathy
How is masitits diagnosed
Clinically
Breast milk cultures or imaging may be required if there is no response to intitital treatment
How is masitits treated
In nursing mothers, breastfeeding with alternate breasts is recommended every 2–3 hours.
Patients with mastitis should continue to breastfeed to reduce risk of breast abscess
Analgesics (e.g., ibuprofen)
Cold compresses
Antibiotic treatment
-Oral penicillinase-resistant penicillin or cephalosporin (e.g., dicloxacillin or cephalexin)
-In the case of methicillin-resistant Staphylococcus aureus (MRSA): clindamycin or trimethoprim-sulfamethoxazole (TMP-SMX) or vancomycin for severe cases
In the case of inadequate response to initial treatment:
- Initiate treatment according to breast milk culture results.
- Consider an underlying breast abscess, which requires surgical drainage.
How is mastitis prevented
Anticipatory lactational counseling
To prevent recurrence: oral Lactobacillus probiotic
What is a breast abscess
An encapsulated accumulation of pus within the breast tissue
The main complication of mastitis
What are the clincial features of a brest abscess
Breast pain, erythema, and edema Purulent discharge from the nipple of the affected breast Fluctuating mass on palpation Possibly overlying skin necrosis Fever Nausea
How is a breast abscess treated
Needle aspiration: for abscesses with intact overlying skin
Incision and drainage: if overlying skin necrosis is present
Antibiotic treatment (samer as for mastitis)
What is fat necrosis of the breast
Benign nonsuppurative inflammatory lesion affecting adipose tissue of the breast
What is the epidemiology of fat necrosis of the breast
Incidence: < 3% of all breast lesions
Peak incidence: 50 years
What is the aetiology of fat necrosis of the breast
Trauma
What are the clinical features of fat necrosis of the breast
Nontender periareolar mass with irregular borders
Breast skin retraction, erythema, or ecchymosis
How is fat necrosis of the breast diagnosed
Mammogram and/or ultrasound:
- Fluid-filled oil cyst
- Coarse rim calcifications
Biopsy (if any suspicious or inconclusive imaging findings)
- Foam cells and multinucleated giant cells
- Necrotic fat cells
- Hemosiderin deposition and chronic inflammation
How is fat necrosis of the breast treated
No treatment required
What is mammary duct ectasia
Subareolar periductal chronic inflammatory condition defined by dilated mammary ducts which are eventually clogged
What is the epidemiology of mammary duct ectasia
Most common in perimenopausal women
Peak incidence: 40–50 years
What is the aetiology of mammary duct ectasia
Inspissated luminal secretion stasis leading to periductal inflammation and fibrous obliteration
What are the clinical features of mammary duct ectasia
Unilateral greenish or bloody discharge (most common cause of greenish nipple discharge)
Nipple inversion
Firm, stable, painful mass under the nipple (may mimic breast cancer)
May progress to a breast abscess
How is mammary duct ectasia diagnosed
Mammogram and/or ultrasound: can be used to determine mammary duct diameter
Biopsy (if any suspicious or inconclusive imaging findings) can show the following:
- Central cavity filled with neutrophils and secretion
- Pericentral inflammation and/or fibrotic breast parenchyma
- Obliteration of the ducts
How is mammary duct ectasia treated
Usually not necessary (most cases resolve spontaneously)
Antibiotic therapy if infected
Surgical excision for persistent lesions
What are the types of benign breast neoplasms
Fibroadenoma
Phyllodes tumor
Intraductal papilloma
Lobular carcinoma in situ (LCIS)
What is a fibroadenoma
Bengin breast tumor with fibrous and glandular tissue
What is the epidemiology of fibroadenoma
Most common breast tumour in women <35 years
Peak incidence 15-35 years
What is the aetiology of fibroadenoma
Unknown, but a hormonal relationship has been established (increased estrogen, e.g., during pregnancy or before menstruation, may stimulate growth)
What are the clinical features of fibroadenoma
Usually, a well-defined, mobile mass
Most commonly solitary
Non-tender
Rubbery consistency
How is a fibroadenoma diagnosed
Ultrasound: well-defined mass
Mammogram: well-defined mass that may have popcorn-like calcifications
Core needle biopsy or fine needle aspiration to confirm the diagnosis: fibrous and glandular tissue
How is a fibroadenoma treated
Regular check ups
What is the prognosis of fibroadenoma
Goo
Most not associated with increased risk of breast cancer
What is a phyllodes tumor
Rare fibroepithelaial tumor with histology similar to that of fibroadenoma
What is the epidemiology of a phyllodes tumor
Peak incidence: 40–50 years
Most commonly benign
Approx. 0.4% of all breast tumors
Of unknown aetiology
What are the clincial features of a phyllodes tumor
Painless, smooth, multinodular lump in the breast, with an average size of 4–7 cm
Variable growth rate: may grow slowly over many years, rapidly, or have a biphasic growth pattern
How is a phyllodes tumor diagnosed
Ultrasound and mammogram findings are similar to fibroadenoma, but phyllodes tumors tend to be larger and grow faster than fibroadenomas.
Despite the fact that the lesion is typically benign, a suspected phyllodes tumor should be considered a suspicious mass until proven otherwise.
If a phyllodes tumor is suspected, perform a core needle biopsy
- Leaf-like architecture with papillary projection of epithelium-lined stroma
- Connective tissue and cysts
- Varying degrees of atypia and hyperplasia
How is a phyllodes tumor treated
Surgical excision
In case of recurrence: total mastectomy
What is the prognosis of phyllodes tumor
After excision of benign tumors: excellent prognosis
Lesions that show signs of malignancy on histology may recur and metastasize.
What are the characteristics of lobular carcinoma in situ
Microcalcifications or production of a mass are rare (usually incidental biopsy finding).
Lower risk of subsequent invasive carcinoma (equal predisposition in both breasts) compared to DCIS
Multifocal localisation
What is the pathology of LCIS
Decreased E-cadherin expression
Lobules filled with monomorphic cells
Intact basal membrane
Diffuse growth pattern
How is LCIS managed
After core needle biopsy:
- Clinical and imaging follow-up
- Usually no treatment necessary
After surgical excision:
- Classic LCIS: no further surgery is necessary
- Nonclassic LCIS (e.g., pleomorphic LCIS): evaluation of surgical margins and re-excision is recommended
What is gynaecomastia
Benign proliferation of mammary gland tissue in male individuals or infants of either sex (neonatal gynecomastia)
WHat is the aetiology of gynaecomastia
Increased oestrogen:testosterone ratio
What are the types of physiological gynaecomastia
Neonatal:
- Occurs in up to 90% of neonates due to placental transfer of maternal estrogens
- Gynecomastia is bilateral, sex independent, and spontaneously resolves within a few weeks or months
Pubertal:
- Epidemiology: occurs in up to 50% of adolescent boys
- Pathophysiology: caused by pubertal estrogen/androgen imbalance
- Clinical features:
- Small, mobile, firm plaques of breast tissue in the subareolar region that develop during puberty
- Can be tender, unilateral/bilateral, and associated with fatty development around the nipple
- Spontaneously resolve by 17 years of age
- Management
- Reassurance of benign nature of the condition
- Surgical removal of the breast glandular tissue is indicated for pubertal gynecomastia which persists after 17 years of age (persistent pubertal gynecomastia).
Senile:
-Occurs in ~50% of men over 50 years of age
What is pathological gynaecomastia
Due to estrogen excess:
- Malignancies
- Leydig cell tumor
- Sertoli cell tumor
- Ectopic hCG-producing tumors (e.g., lung cancer, hepatocellular carcinoma)
- Adrenocortical tumors
- Liver cirrhosis: due to increased conversion of adrenal androgen precursors to estrogen
- Hyperthyroidism: due to ↑ peripheral conversion of androgens to estrogens and ↑ hepatic production of sex hormone binding globulin (SHBG), which has a higher affinity for testosterone → ↓ free testosterone and a relative increase in estrogen
- Refeeding (after prolonged starvation) [36]
Due to decreased testosterone:
- Klinefelter syndrome
- Chronic kidney disease
- Testicular disorders (e.g., mumps orchitis, castration, trauma to both testes)
- Starvation
Due to drugs
- Inhibitors of testosterone receptors
- Antiandrogens (e.g., finasteride, bicalutamide, cyproterone acetate, flutamide)
- High-dose cimetidine (H2 receptor blocker)
- Spironolactone
- Inhibitors of testosterone synthesis
- Ketoconazole
- Spironolactone
- Chemotherapy drugs (e.g., cyclophosphamide, methotrexate, bleomycin, cisplatin, vincristine)
- Exogenous androgens and androgenic steroids
- Exogenous testosterone
- Androgen precursors (e.g., DHEA, androstenedione)
- Androgenic steroids
- Estrogen receptor stimulators
- Estrogens
- Digitalis compounds
- Marijuana
- HAART drugs
Idiopathic:
-25% of patients
What are the clinical features of gynaecomastia
Firm, concentric mass at the nipple-areolar complex that may be tender
In pathological gynecomastia: possible features of undervirilization, hyperthyroidism, liver/kidney disease, etc.
How is gynaecomastia diagnosed
Laboratory studies:
- Serum levels of testosterone, estradiol, luteinizing hormone, and hCG: indicated in patients with pathological/idiopathic gynecomastia
- Other tests based on history and examination findings:
- Liver function tests
- Renal function tests
- Thyroid hormone assay
Imaging:
- Mammography and ultrasound-guided biopsy
- Indicated in patients with suspected breast cancer
- Gynecomastia appears as normal breast tissue behind the nipple on mammography.
- Testicular ultrasound:
- indicated in patients with abnormal findings on testicular examination, signs of undervirilization, features of primary hypogonadism, or ↑ hCG levels
What are the differentials in suspected gynaecomastia
Pseudogynecomastia
Male breast cancer
Mastitis
Lipoma
What is the treatment for gynaecomastia
Treat the underlying cause.
- Discontinue the offending drug (if possible).
- Treat hyperthyroidism, hypogonadism, chronic liver or kidney disease.
Observation: indicated in physiological and recent-onset (< 6 months) pathological gynecomastia
Medical therapy:
- indicated for cosmesis or tender gynecomastia in select patients
- Testosterone replacement: in patients with hypogonadism
- Selective estrogen receptor modulators (e.g., tamoxifen): in patients with severe pubertal gynecomastia or idiopathic gynecomastia > 3 months that causes substantial breast enlargement with tenderness and/or psychosocial distress
Surgery (subcutaneous mastectomy):
-indicated for cosmesis in persistent gynecomastia (> 1 year)
What is galactocele
A milk retention cyst located in the mammary gland
What is the the epidemiology of a galactocele
Frequently occurs during or after lactation
Most common benign breast lesion in lactating women
What is the the pathophysiology of a galactocele
Obstruction of lactiferous duct → distention of the duct due to collection of milk and epithelial cells → cyst formation
What are the clinical features of a galactocele
Firm, nontender mass, typically located in the sub-areolar region
Pain suggests secondary infection.
How is a galactocele diagnosed
Primarily a clinical diagnosis
Fine needle aspiration: milky substance (diagnostic and therapeutic)
Ultrasound
- Complex mass
- Findings depend on the fat and water content of the cyst
Mammography (rarely indicated): Galactoceles may appear as an indeterminate mass or a mass with the classic fat-fluid level.
What are the differentials in a suspected galactoceles
Pseudolipoma
Cystic mass with fat fluid level
Pseudohamartoma
How is a galactocele treated
Usually not necessary as most spontaneously resolve
Repeated needle aspiration or surgical excision for symptomatic cysts
WHat is the prognosis of a galactocele
Usually good
No increased risk of subsequent breast cancer
What is superficial thrombophlebitis of the breast
AKA Mondor disease
Thrombophlebitis of the superficial veins of the breast and/or anterior chest wall
What is the aetiology of Mondor disease
Idiopathic
Iatrogenic (e.g., breast surgery, breast biopsy, radiation therapy)
Traumatic (e.g., tight brassiere use, strenuous exercise)
What are the clinical features of Mondor disease
Sudden onset
Painful, thickened, cord-like lump or mass
Overlying erythema of the superficial veins of the breast and/or anterior chest wall
How is mondor disease diagnosed
Clinical features and history
Imaging: ultrasound and/or mammography to rule out other underlying conditions
How is mondor disease managed
Conservative measures:
- Warm compressed
- NSAIDs
- Avoidance of irritating clothes
What is the prognosis of mondor disease
Benign and self-limited disease
What is a breast cyst
A well-circumscribed collection of fluid within the breast that is influenced by hormonal changes
What is the epidemiology of breast cysts
25% of all breast masses
Most common in premenopausal women
Peak incidence: 35–50 years of age
How are breast cysts classified
Solitary breast cyst (most common): a single, circumscribed collection of fluid within the breast
Multiple breast cysts: multiple, circumscribed collections of fluid within the breast
Simple breast cysts: smooth, thin, regularly shaped walls that are completely filled with fluid
Complicated breast cysts: thin-walled cysts filled with fluid and debris
Complex breast cysts : thick-walled or septated masses, with intracystic or other solid components
What are the clincial features of a breast cyst diagnosis
Single or multiple breast masses
May be painful or tender
Variable size (microcysts, gross cyst, clusters) and texture (smooth, soft, firm)
Usually movable
How are breast cysts diagnosed
The preferred initial study depends on the woman’s age.
Breast ultrasound and/or mammography:
- Simple cyst
- Imperceptible wall, well-defined, round, anechoic lesion with posterior acoustic enhancement and no solid components
- Up to 1–2 inches (2.5–5 cm) in size
- Other findings include peripheral calcifications and reverberation artifacts
- Complicated cysts:
- Thin-walled, homogeneous hypoechoic mass or fluid levels, with or without posterior acoustic enhancement
- Complex cysts:
- Thick-walled, thickly septated, or intracystic mass with irregular or lobulated margins and posterior acoustic enhancement due to the presence of cystic components
Other: MRI
How are breast cysts managed
Simple and complicated cysts:
- Mostly benign; do not require intervention
- If the cyst is large, painful, and/or has signs of infection: ultrasound-guided fine-needle aspiration
- Rarely, complicated cysts are diagnosed as probably benign: clinical follow up in 6 months and repeat imaging
Complex cysts:
- May develop into breast cancer
- Ultrasound-guided core needle biopsy
What is mastalgia
Breast discomfort or tenderness caused by physiological changes (e.g., hormonal effects) or disease (e.g., breast cancer).
What is the epidemiology of mastalgia
Peak age: 30–50 years of age
Approx. 70% of women are affected during their lifetime.
How is mastalgia classified
Cyclical mastalgia:
- Primary breast pain associated with the menstrual cycle
- Aetiology: hormonal fluctuations of the menstrual cycle, postmenopausal hormone therapy, and oral contraceptive use
Noncyclical mastalgia:
- Primary breast pain not associated with the menstrual cycle
- Aetiology: breast lesions or cysts, chest wall trauma, hormone replacement therapy, pendulous breasts, previous breast surgery
Extramammary pain:
- Secondary breast pain referred from extramammary locations
- Aetiology: chest wall or spinal disorders and trauma
What are the clinical features of mastalgia
Cyclical mastalgia:
- Often bilateral, diffuse breast pain
- Typically, most severe in the upper outer quadrant of the breasts
- May radiate to the medial aspect of the upper arm
- Usually worsens the week prior to the onset of menstruation
Noncyclical mastalgia:
- Unilateral or bilateral breast pain, usually located over the costal cartilages
- Sharp or burning pain and/or soreness
Extramammary pain:
-Depends on the underlying condition
How is mastalgia diagnosed
Medical history (e.g., hormone therapy, trauma, surgical history, risk factors for breast cancer)
Physical examination:
- Focused breast examination
- Look for signs of infection (e.g., erythema, swelling, pain)
- Rule out signs suggestive of breast malignancy (e.g., skin changes, mass, nipple discharge)
Imaging:
- Breast ultrasound and/or mammography
- Indications: depend on the patient’s age and the presence of findings suggestive of malignancy
- Women with cyclical breast pain usually do not require imaging.
- Women with noncyclical or focal breast pain that is not extramammary should undergo breast imaging.
- – < 30 years of age: ultrasound
- – 30–39 years of age: ultrasound and/or mammography
- – ≥ 40 years of age: ultrasound and/mammography
How is mastalgia treated
First-line treatment: Conservative -Provide reassurance -Recommend well-fitting sports bra -Use of warm or cold compresses -Analgesia (e.g., acetaminophen, NSAIDs)
Second-line treatment: for patients with persistent (> 6 months of conservative treatment) or severe symptoms
- Tamoxifen
- Postmenopausal hormone therapy should be decreased or discontinued if it is the cause of breast pain.
What is the prognosis in diagnosed mastalgia
Cyclical mastalgia:
- Usually resolves spontaneously within 3 months of onset
- Typically relapses and remits
Noncyclical mastalgia:
- Resolves spontaneously in approx. 50% of patients
- Usually responds poorly to treatment
