Gynaecology Flashcards
3 causes of primary amenorrhoea
- Abnormal functioning of the hypothalamus or pituitary gland (hypogonadotropic hypogonadism)
- Abnormal functioning of the gonads (hypergonadotropic hypogonadism)
- Imperforate hymen or other structural pathology
Causes of secondary amenorrhea
Pregnancy (the most common cause)
Menopause
Physiological stress due to excessive exercise, low body weight, chronic disease or psychosocial factors
Polycystic ovarian syndrome
Medications, such as hormonal contraceptives
Premature ovarian insufficiency (menopause before 40 years)
Thyroid hormone abnormalities (hyper or hypothyroid)
Excessive prolactin, from a prolactinoma
Cushing’s syndrome
causes of irregular menstruation
an ovulation/ irregular ovulation - bc hormone levels disrupted or ovarian pathology
Extremes of reproductive age (early periods or perimenopause)
PCOS
Physiological stress (excessive exercise, low body weight, chronic disease and psychosocial factors)
Medications, particularly progesterone only contraception, antidepressants and antipsychotics
Hormonal imbalances, such as thyroid abnormalities, Cushing’s syndrome and high prolactin
Intermenstrual bleeding causes
Red flag - cancer
Hormonal contraception Cervical ectropion, polyps or cancer STI Endometrial polyps or cancer Vaginal pathology, including cancers Pregnancy Ovulation can cause spotting in some women Medications, such as SSRIs and anticoagulants
causes of dysmenorrhoea
Primary dysmenorrhoea (no underlying pathology) Endometriosis or adenomyosis Fibroids Pelvic inflammatory disease Copper coil Cervical or ovarian cancer
cause of menorrhagia
Dysfunctional uterine bleeding (no identifiable cause)
Extremes of reproductive age
Fibroids
Endometriosis and adenomyosis
Pelvic inflammatory disease (infection)
Contraceptives, particularly the copper coil
Anticoagulant medications
Bleeding disorders (e.g. Von Willebrand disease)
Endocrine disorders (diabetes and hypothyroidism)
Connective tissue disorders
Endometrial hyperplasia or cance
Polycystic ovarian syndrome
Postcoital bleeding causes
red flag - cancer (not v common)
Cervical cancer, ectropion or infection Trauma Atrophic vaginitis Polyps Endometrial cancer Vaginal cancer
Pelvic pain differentials
UTI Dysmenorrhoea IBS Ovarian cysts Endometriosis PID Ectopic pregnancy Appendicitis Mittelschmerz (cyclical pain during ovulation) Pelvic adhesions Ovarian torsion IBD
causes of pruritus vulvae
Irritants such as soaps, detergents and barrier contraception Atrophic vaginitis Infections such as candidiasis (thrush) and pubic lice Skin conditions such as eczema Vulval malignancy Pregnancy-related vaginal discharge Urinary or faecal incontinence Stress
what hormones are low in Hypogonadotropic Hypogonadism
low LH and FSH
–> low oestrogen, ovaries not stimulated
A deficiency of LH and FSH is the result of abnormal functioning of the hypothalamus or pituitary gland.
causes of Hypogonadotropic Hypogonadism
A deficiency of LH and FSH is the result of abnormal functioning of the hypothalamus or pituitary gland.
- Hypopituitarism
- Damage to the hypothalamus or pituitary, (radiotherapy or surgery for cancer)
- Significant chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or IBD)
Excessive exercise or dieting can delay the onset of menstruation in girls
Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology
Endocrine disorders such as growth hormone deficiency, hypothyroidism, Cushing’s or hyperprolactinaemia
Kallman syndrome
causes of Hypergonadotropic Hypogonadism
gonads don’t respond to LH and FSH so no oestrogen, but no -FB so inc LH and FSH production
result of abnormal functioning of the gonads
- Previous damage to the gonads (e.g. torsion, cancer or infections such as mumps)
- Congenital absence of the ovaries
- Turner’s syndrome (XO)
what is Kallman syndrome associated with
genetic condition causing hypogonadotrophic hypogonadism, with failure to start puberty.
It is associated with anosmia
what investigation can you do for constitutional delay
X-ray wrist
How does hyperprolactinaemia cause secondary amenorrhoea?
high prolactin acts on hypothalamus –> prevent release of GnRH
–>. no LH or FSH
mc cause = pituitary adenoma secreting prolactin
–> tx with dopamine agonists (bromocriptine, cabergoline)
what does high FSH suggest?
primary ovarian failure
what does high LH or LH:FSH suggest?
PCOS
what 3 conditions can raised testosterone indicate?
PCOS
androgen insensitivity
congenital darnel hyperplasia
why do women with PCOS require a withdrawal bleed every 3-4 months?
to dec risk of endometrial hyperplasia and endometrial cancer
–> Medroxyprogesterone for 14 days, or regular use of COCP
When can you get PMS?
Symptoms are not present before menarche, during pregnancy or after menopause.
The symptoms of PMS resolve once menstruation begins
Symptoms can occur in the absence of menstruation after
- a hysterectomy,
- endometrial ablation
- on the Mirena coil, as the ovaries continue to function and the hormonal cycle continues.
They can also occur in response to the COCP or cyclical hormone replacement therapy containing progesterone, and this is described as progesterone-induced premenstrual disorder.
what do you call PMS when has significant effect on QOL?
premenstrual dysphoric disorder
Management of PMS
Lifestyle
COCP
SSRIs
CBT
COCP - containing drospirenone (i.e. Yasmin) –> antimineralocortioid effects, use continuously
transdermal oestrogen patches (with progesterone (pill or Mirena)
GnRH (induce menopause, osteoporosis risk)/ HRT
hysterectomy + bilateral oophorectomy
danazole and tamoxifen - cyclical breast pain
spironolactone - for breast swelling, water retention and bloating.
why would you arrange an outpatient hysteroscopy for heavy menstrual bleeding?
- Suspected submucosal fibroids
- Suspected endometrial pathology, such as endometrial hyperplasia or cancer
- Persistent intermenstrual bleeding
why would you arrange a pelvic and transvaginal US for heavy menstrual bleeding?
- Possible large fibroids (palpable pelvic mass)
- Possible adenomyosis (associated pelvic pain or tenderness on examination)
- Examination is difficult to interpret (e.g. obesity)
- Hysteroscopy is declined
2 options of surgical management for menorrhagia
endometrial ablation = balloon thermal ablation
hysterectomy.
What fibroids can distort the shape of the uterus?
(probs all idk)
intramural - grow and change shape
subserosal - can grow v large, fill Abdo cavity
how do you investigate for submucosal and larger fibroids?
hysteroscopy - submucosal fibroids presenting with heavy menstrual bleeding.
pelvic US - larger fibroids.
MRI scan - plan surgery
what size cut off for fibroid to refer to gynae?
if >3cm –> gynae
medical (4) and surgical management (3) of large fibroids >3cm with menorrhagia
refer gynae
- Symptomatic management with NSAIDs and tranexamic acid
- Mirena coil - depending on the size and shape of the fibroids and uterus (not if distorted)
- COCP
- Cyclical oral progestogens
Surgical options for larger fibroids are:
- Uterine artery embolisation
- Myomectomy
- Hysterectomy
medical (4) and surgical management (3) of small fibroids <3cm with menorrhagia
Mirena coil (1st line) - fibroids must be less than 3cm with no distortion of the uterus
Symptomatic management with NSAIDs and tranexamic acid
Combined oral contraceptive
Cyclical oral progestogens
Surgical options for managing smaller fibroids with heavy menstrual bleeding are:
- Endometrial ablation
- Resection of submucosal fibroids during hysteroscopy
- Hysterectomy
what meds can be given to shrink fibroids before surgery?
GnRH agonists, such as goserelin (Zoladex) or leuprorelin (Prostap)
–> induce menopause, dec oestrogen
what treatment can potentially improve fertility with fibroids?
myomectomy
via laparoscopic or laparotomy (open)
what is red degeneration of fibroids?
ischaemia, infarction and necrosis of the fibroid due to disrupted blood supply. - more likely to occur in larger fibroids (> 5 cm) during the 2nd +3rd Tri
fibroid rapidly grows or kinking of blood vessels as uterus changes shape
signs of red degeneration of fibroids
severe abdominal pain, low-grade fever, tachycardia and often vomiting.
Management is supportive, with rest, fluids and analgesia.
name for endometriosis in ovaries and myometrium
ovaries = chocolate cysts myo = adenomyosis
how can the pain from endometriosis change over time?
at start, cyclical, dull, heavy or burning pain that occurs during menstruation in patients with endometriosis
can develop adhesions from localised bleeding and inflammation –> chronic, non-cyclical pain that can be sharp, stabbing or pulling and associated with nausea.
symptoms tend to resolve after menopause (like adenomyosis and fibroids)
what would you see on pelvic exam for endometriosis ?
Endometrial tissue visible in the vagina on speculum examination, particularly in the posterior fornix
A fixed cervix on bimanual examination
Tenderness in the vagina, cervix and adnexa
what’s gold standard way to diagnose endometriosis
laparoscopic surgery
–> definitive diagnosis with biopsy
Who is adenomyosis more common in?
It is more common in later reproductive years and those that have had several pregnancies (multiparous).
what pregnancy complications is adenomyosis associated with?
Infertility Miscarriage Preterm birth Small for gestational age Preterm premature rupture of membranes Malpresentation Need for caesarean section Postpartum haemorrhage
hormone levels in menopause and phsyiology
dec developmental of ovarian follicles –>dec oestrogen
oes has -FB on pit gland, no -FB so inc levels of LH and FSH
no follicular development –> anovulation
no oestrogen –> no endometrial developmental –> no menstruation
no oes –> perimenopausal symptoms
when and what blood test would you do to help diagnose menopause?
FSH
W <40 with ?premature menopause
W 40-45 with menopausal symptoms or change in menstrual cycle
what age is the limit for depot injection and why?
45
dec bone mineral density, also causes weight gain
hormone levels in Premature ovarian insufficiency
hypergonadotropic hypogonadism.
Raised LH and FSH levels (gonadotropins)
Low oestradiol levels
key reasons for choosing HRT regime
- Uterus –> require endometrial protection with progesterone
- No uterus –> can have oestrogen-only HRT.
- still menstruating –> cyclical HRT, with cyclical progesterone and regular breakthrough bleeds.
- Postmenopausal + uterus + >12 months without periods –> continuous combined HRT.
what criteria do you use to diagnose PCOS
A diagnosis requires at least two of the three key features:
- Oligoovulation or anovulation, presenting with irregular or absent menstrual periods
- Hyperandrogenism, characterised by hirsutism and acne
- Polycystic ovaries on ultrasound (or ovarian volume of more than 10cm3)
what can cause hirsutism?
PCOS
Medications, such as phenytoin, ciclosporin, corticosteroids, testosterone and anabolic steroids
Ovarian or adrenal tumours that secrete androgens
Cushing’s syndrome
Congenital adrenal hyperplasia
what is the effect of insulin resistance in PCOS?
make more insulin
–> promotes release of androgens from ovaries and adrenal glands
insulin –> suppresses SHBG sex hormone binding globulin production by liver –> hyperandrogegism (usually suppresses)
insulin –>stop development of follicles –> an ovulation and multiple partially evelopmed follicles (PCO on US)
what do blood tests show for PCOS?
Raised LH Raised LH to FSH ratio (high LH compared with FSH) Raised testosterone Raised insulin Normal or raised oestrogen levels
can also test:
- Sex hormone-binding globulin
- prolactin (may be mildly raised)
- TSH
what is US sign for PCOS?
string of pearls = follicles arranged around periphery of ovary
- TV US is gold standard
diagnose:
≥12 developing follicles in one ovary
Ovarian volume > 10cm3
*can’t use pelvic US in teenagers
how do you test for diabetes in PCOS patients?
OGTT
Impaired fasting glucose - fasting glucose of 6.1 - 6.9 mmol/l (before the glucose drink)
Impaired glucose tolerance - plasma glucose at 2 hours of 7.8 - 11.1 mmol/l
Diabetes - plasma glucose at 2 hours above 11.1 mmol/l
Orlistat MOA
lipase inhibitor: decrease absorption of dietary fats by 30%
what 4 factors inc risk of endometrial cancer in PCOS?
Obesity
Diabetes
Insulin resistance
Amenorrhoea
3 ways ovarian cysts can present acutely
acute pelvic pain
- torsion
- haemorrhage
- rupture
2 types of functional cysts
follicular
- developing follicle, fail to rupture so persist for few periods and disappear
- MC ovarian cyst
corpus luteum
- CL fails to break down, fills with fluid
- pelvic pain, delayed menstruation
- in early pregnancy
5 types of ovarian cysts (not functional)
- Serous Cystadenoma
- benign, epithelial cells. - Mucinous Cystadenoma - benign, epithelial cells
- can become huge - Endometrioma
- within the ovary, in pts with endometriosis.
- pain and disrupt ovulation - Dermoid cyst/ germ cell tumour
- benign ovarian tumours
= teratomas (come from germ cells) –> skin, teeth, hair, bone cells
- assoc with ovarian torsion - sex cord stromal tumours
- rare, benign or malignant
- from storm (CT) or sex cords (embryonic structures assoc with follicles)
- diff types: i.e. Sertoli-Leydig cell tumours, granulose cell tumours
what factors dec risk of ovarian cancer
more ovulations... Later onset of periods (menarche) Early menopause Any pregnancies Use of the combined contraceptive pill
how do you manage a Premenopausal women with a simple ovarian cyst less than 5cm on ultrasound
don’t need any more investigations
–> should resolve within 3 cycles
what are the 3 tumours markers for a germ cell tumour of ovaries
Women under 40 years with a complex ovarian mass require tumour markers for a possible germ cell tumour:
Lactate dehydrogenase (LDH) Alpha-fetoprotein (α-FP) Human chorionic gonadotropin (HCG)
causes of raised CA125
tumour marker for epithelial cell ovarian cancer. It is not very specific
Endometriosis Fibroids Adenomyosis Pelvic infection Liver disease Pregnancy
what is the risk of malignancy index RMI used for?
RMI - estimates the risk of an ovarian mass being malignant, taking account of three things:
Menopausal status
Ultrasound findings
CA125 level
what’s referral time for ?ovarian cancer (complex cyst or raised CA125) or dermoid cyst to gynae?
cancer –> 2WW
cyst –> refer to gynae for further Ix and consideration of surgery
if normal CA125 and cyst <5cm, can be monitored by US every 4-6 months
management of ovarian cysts in premenopausal women
based on size
<5cm –> resolve in 3 cycles, no follow up
5-7cm –> routine referral ti gynae, monitor x1 year
> 7cm –> MRI or surgical evaluation, can be diff to characterise on US
What is Meig’s syndrome?
triad of ovarian fibroma (benign), ascites, pleural effusion
- in older women
- remove tumour and complete resolution
how does ovarian torsion occur?
ovary twists in relation to the surrounding connective tissue, fallopian tube and blood supply (the adnexa).
usually ovarian mass > 5cm
It is more likely to occur with benign tumours and during pregnancy.
Can also happen with normal ovaries in younger girls before menarche if have longer infundibulopelvic ligaments that can twist more easily.
investigation of ovarian torsion and sign
Pelvic ultrasound is the initial investigation of choice. Transvaginal is ideal, but transabdominal can be used
–> may show “whirlpool sign”, free fluid in pelvis and oedema of the ovary.
Doppler studies may show a lack of blood flow
The definitive diagnosis is made with laparoscopic surgery
Management of ovarian torsion
laparoscopic
- Un-twist the ovary and fix it in place (detorsion)
- Remove the affected ovary (oophorectomy)
decide in surgery
laparotomy if big mass/ malignancy
What is Asherman syndrome?
Adhesions (aka synechiae) form within uterus, from damage
(asymptomatic adhesions are not classified as Ashermanns - menstrual abnormalities, infertility, rec miscarriages)
MC after pregnancy-related dilatation and curettage procedure,
–> tx of retained products of conception, myomectomy or endometritis
Why does Ashermann syndrome usually occur post D&C?
Endometrial curettage (scraping) can damage the basal layer of the endometrium. This damaged tissue may heal abnormally, creating scar tissue (adhesions) There may be adhesions binding the uterine walls together, or within the endocervix, sealing it shut.
These adhesions form physical obstructions and distort the pelvic organs, resulting in menstruation abnormalities, infertility and recurrent miscarriages.
Adhesions may be found incidentally during hysteroscopy.
Asymptomatic adhesions are not classified as Asherman’s syndrome.
presentation of Asherman’s syndrome?
Asherman's syndrome typically presents following recent dilatation and curettage, uterine surgery or endometritis with: Secondary amenorrhoea (absent periods) Significantly lighter periods Dysmenorrhoea (painful periods) It may also present with infertility.
4 ways to diagnose Asherman’s syndrome
There are several options for establishing a diagnosis of intrauterine adhesions:
- Hysteroscopy is the gold standard investigation, and can involve dissection and treatment of the adhesions
- Hysterosalpingography, where contrast is injected into the uterus and imaged with xrays
- Sonohysterography, where the uterus is filled with fluid and a pelvic ultrasound is performed
- MRI scan
What is a Cervical ectropion?
AKA Cervical ectopy or ectropion or cervical erosion
- columnar epithelium of the endocervix (the canal of the cervix) has extended out to the ectocervix (stratified squamous) (the outer area of the cervix).
lining of the endocervix becomes visible on examination of the cervix using a speculum –> looks different
-unrelated to cervical cancer!
why does cervical ectropion present with postcoital bleeding?
The cells of the endocervix (columnar epithelial cells) are more fragile and prone to trauma. They are more likely to bleed with sex
3 risk factors for cervical ectropion
higher oestrogen levels…
- younger W
- COCP
- pregnancy
what is the transformation zone?
the border between the columnar epithelium of the endocervix (the canal), and the stratified squamous epithelium of the ectocervix (the outer area of the cervix visible on speculum examination).
When the transformation zone is located on the ectocervix, it is visible by speculum as border btw the 2 epithelial types
what is the presentation of cervical ectropion?
- many asymptomatic, found on smear test
increased vaginal discharge,
vaginal bleeding dyspareunia
postcoital bleeding
examination of cervical ectropion
speculum
well-demarcated border between the redder, velvety columnar epithelium extending from the os (opening), and the pale pink squamous epithelium of the endocervix. This border is the transformation zone.
management options for cervical ectropion
asymptomatic –> no tx, will resolve with dec oestrogen
problematic bleeding
–> cauterisation of ectropion with silver nitrate or cold coagulation during colposcopy
What is a nabothian cyst?
AKA nabothian follicles or mucinous retention cysts
= fluid-filled cysts often seen on the surface of the cervix
harmless, no link to cancer
when do nabothian cysts tend to occur?
- after childbirth
- minor trauma to cervix
- cervicitis after infection
Presentation of nabothian cyst
incidental on speculum
smooth rounded bumps on the cervix, usually near to os (opening). They can range in size from 2mm to 30mm, and have a whitish or yellow appearance.
management for nabothian cyst
no treatment, resolve
if ?dx –> colposcopy
v rarely excised or biopsied
What is a vault prolapse?
occurs in women that have had a hysterectomy, and no longer have a uterus. The top of the vagina (the vault) descends into the vagina.
how can you grade the severity of uterine prolapse
The severity of a uterine prolapse can be graded using the pelvic organ prolapse quantification (POP-Q) system:
Grade 0: Normal
Grade 1: The lowest part is more than 1cm above the introitus
Grade 2: The lowest part is within 1cm of the introitus (above or below)
Grade 3: The lowest part is more than 1cm below the introitus, but not fully descended
Grade 4: Full descent with eversion of the vagina
A prolapse extending beyond the introitus can be referred to as uterine procidentia.
what can cause overflow incontinence?
Chronic urinary retention results in an overflow of urine, and the incontinence occurs without the urge to pass urine (constant)
It can occur with:
- anticholinergic medications,
- fibroids,
- pelvic tumours and
- neurological conditions such as multiple sclerosis, diabetic neuropathy and spinal cord injuries.
Overflow incontinence is more common in men, and rare in women. Women with suspected overflow incontinence should be referred for urodynamic testing and specialist management.
How can you grade pelvic muscle contractions
on bimanual, ask W to squeeze against finger
graded using the modified Oxford grading system:
0: No contraction
1: Faint contraction
2: Weak contraction
3: Moderate contraction with some resistance
4: Good contraction with resistance
5: Strong contraction, a firm squeeze and drawing inwards
what is urodynamic testing useful for?
can be used to investigate patients with urge incontinence not responding to first-line medical treatments, difficulties urinating, urinary retention, previous surgery or an unclear diagnosis.
It is not always required where the diagnosis is possible based on the history and examination.
How does urodynamic test work?
Urodynamic tests are a way of objectively assessing the presence and severity of urinary symptoms. Patients need to stop taking any anticholinergic and bladder related medications around five days before the tests.
A thin catheter is inserted into the bladder, and another into the rectum. These two catheters can measure the pressures in the bladder and rectum for comparison. The bladder is filled with liquid, and various outcome measures are taken:
- Cystometry - measures the detrusor muscle contraction and pressure
- Uroflowmetry - measures the flow rate
- Leak point pressure - is the point at which the bladder pressure results in leakage of urine. The patient is asked to cough, move or jump when the bladder is filled to various capacities. This assesses for stress incontinence.
- Post-void residual bladder volume - tests for incomplete emptying of the bladder
Video urodynamic testing - involves filling the bladder with contrast and taking xray images as the bladder is emptied. Theses are only performed where necessary and not a routine part of urodynamic testing.
Where are the Bartholin glands located?
On each side of the posterior part of vaginal introits (opening) -5 and 7 o’clock
pea sized, not usually palpable
produce mucus to help with lubrication
what’s the difference between bartholin cyst and abscess?
duct becomes blocked, gland swells and becomes tender = cyst 1-4cm
cyst infected –> abscess = hot, red, tender, drains pus
clinical diagnosis
management of bartholin cyst and abscess?
cysts - resolve with good hygiene, analgesia, warm compress
abscess –> abs, swab pus for culture (E.coli MC cause), chlamydia and gonorrhoea
word catheter (ballon under LA) marsupialisation (under GA)
what is most common causative organisms of bartholin abscess?
E. coli
What is lichen sclerosis?
Chronic inflammatory condition of the anogenital region, most commonly affecting postmenopausal women with classic late findings of ivory or porcelain-white macules and plaques with pruritus.
can affect axilla and thigh
can affect men on foreskin and glans
autoimmune
how do you diagnose lichen sclerosis?
Clinical picture - porcelain white skin
vulval biopsy if doubt
+Dermal infllammatory infiltrate
what’s the difference between lichen sclerosis/ lichen simplex or lichen planus?
ichen = a flat eruption that spreads
lichen sclerosis - perianal porcelain hite skin patches, autoimmune chronic inflammatory
Lichen simplex is chronic inflammation and irritation caused by repeated scratching and rubbing of an area of skin. This presents with excoriations, plaques, scaling and thickened skin.
Lichen planus is an autoimmune condition that causes localised chronic inflammation with shiny, purplish, flat-topped raised areas with white lines across the surface called Wickham’s striae.
Appearance of lichen sclerosis
There can be associated fissures, cracks, erosions or haemorrhages under the skin. The affected skin appears: "Porcelain-white" in colour Shiny Tight Thin Slightly raised There may be papules or plaques
management of lichen sclerosis
no cure, control symptoms
follow up 3-6 months with gynae or derm
potent topical steroids (dermovate = clobetasol propionate 0.05%)
Steroids are used long term to control the symptoms of the condition. They also seem to reduce the risk of malignancy.
initially used once a day for four weeks, then gradually reduced in frequency every four weeks to alternate days, then twice weekly. When the condition flares patients can go back to using topical steroids daily until they achieve good control. A 30g tube should last at least three months.
Emollients should be used regularly, both with steroids initially and then as part of maintenance.
complications of lichen sclerosis
The critical complication to remember is a 5% risk of developing squamous cell carcinoma of the vulva.
Other complications include: Pain and discomfort Sexual dysfunction Bleeding Narrowing of the vaginal or urethral openings
4 types of FGM
Clitoridectomy
Excision
Infibulation
Other
Type 1: Removal of part or all of the clitoris.
Type 2: Removal of part or all of the clitoris and labia minora. The labia majora may also be removed.
Type 3: Narrowing or closing the vaginal orifice (infibulation).
Type 4: All other unnecessary procedures to the female genitalia.
FGM complications
Immediate complications include: Pain Bleeding Infection Swelling Urinary retention Urethral damage and incontinence
Long term complications include:
Vaginal infections, such as bacterial vaginosis
Pelvic infections
Urinary tract infections
Dysmenorrhea (painful menstruation)
Sexual dysfunction and dyspareunia (painful sex)
Infertility and pregnancy-related complications
Significant psychological issues and depression
Reduced engagement with healthcare and screening
What is androgen insensitivity syndrome?
cells are unable to respond to androgen hormones due to a lack of androgen receptors.
X-linked recessive, mutation in the androgen receptor gene on the X chromosome.
Extra androgens are converted into oestrogen, –> female secondary sexual characteristics. It was previously known as testicular feminisation syndrome.
genetically male, with XY but look female
Appearance of someone with Androgen insensitivity syndrome
genetically male, with XY sex chromosome. However, the absent response to testosterone and the conversion of additional androgens to oestrogen result in a female phenotype externally. Typical male sexual characteristics do not develop, and patients have normal female external genitalia and breast tissue.
also lack pubic hair, facial hair and male type muscle development, taller
reproductive organs of someone with Androgen insensitivity syndrome
Patients have testes in the abdomen or inguinal canal, and absence of a uterus, upper vagina, cervix, fallopian tubes and ovaries. The female internal organs do not develop because the testes produce anti-Müllerian hormone, which prevents males from developing an upper vagina, uterus, cervix and fallopian tubes.
presentation and investigation of Androgen insensitivity syndrome
in infancy with inguinal hernias containing testes. Alternatively, it presents at puberty with primary amenorrhoea.
The results of hormone tests are: Raised LH Normal or raised FSH Normal or raised testosterone levels (for a male) Raised oestrogen levels (for a male)
management for Androgen insensitivity syndrome
Bilateral orchidectomy (removal of the testes) to avoid testicular tumours
Oestrogen therapy
Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length
