60. Pediatric gynecology. Common conditions -diagnosis and treatment Flashcards
paediatric gynaecology conditions are separated into what ?
neonates , toddler , and infants <5 years old
premenarchal 5-11 years
perimenarchal to adolescence 12-18 years
what are the common conditions needing clinical attention in below 5 years old ?
clitorial enlargement
labial adhesion
muco or hydroclops
ovarian enlargement
what are the common conditions in premenarchal ?
vulvovaginitis in childhood
precocious puberty
neoplasm
abnormal vaginal bleeding
what are the postmenarchal to adolescence conditions ?
menstrual disorders - DUB - menorrhagia
differs from common cause is fibroids and polyps.
delayed puberty
hirsutism
primary amnerorrhea
what are the causes for clitorial enlargement ?
CLASSIC congenital adrenal hyperplasia - sever 21 b hydroxylase deficiency
fraser syndrome -AR disorder fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes ( syndactyly ), and abnormalities of the genitalia and urinary tract
androgen insensitivity
what is the treatment for congenital adrenal hyperplasia ?
glucorticoids - hydrocortisone
if 21b hydroxylase
life long fludrocortsone
mineral corticoids to replace aldosterone
Fluid resuscitation with intravenous normal saline
Intravenous
dextrose in patients with significant hypoglycemia
salt if patient deficient
what are other signs to diagnose Frasser syndrome ?
malformations in nose , ears and pharynx
describe what is labial adhesion ?
labia minora has adhered together
starts from posteriorly to anteriorly leaving a small opening at the foremost top through which urine can be leaked
what causes labial adhesion ?
A vulva with low estrogen exposure
has delicate epithelial lining and is therefore vulnerable to infection, inflammation and trauma causing the edges of the labia minora to fuse together
complication of labial adhesion ?
urinary tract infections
treatment of labia fusion ?
unnecessary in asymptomatic - will separate naturally over
required when symptomatic and causing urinary tract infections -topical estrogen cream onto the areas of adhesion with gentle traction on labia
ollowed with vitamin A, vitamin D, and/or petroleum jelly to prevent re-adhesion
labia may be separated manually with local anesthesia or surgically under general anesthesia if topical treatment is unsuccessful. This is followed with estrogen treatment to prevent recurrence.
what is hydrocolpos and what causes hydrocolpos ?
distension of the vagina due to accumulation of fluid
imperforate hymen or a transverse vaginal septum just above the hymen.
excess estrogen stimulation acquired in utero from the mother-causes increased secretion of mucus or watery discharge from the cervical and uterine glands. or in rare cases vesicovaginal fistula it will contain wine
can be associated with vaginal atresia
rarely big enough to produce an abdominal swelling.
diagnosis of hydrocolops ?
Abdominal examination reveals a lower abdominal lump.
Distended bladder (sometimes there’s retention urine) makes the lump apparently bigger
Vulval inspection reveals a tense bulge of the obstructing membrane which looks shiny.
treatment for hydrocolops ?
Cruciate incision is enough to drain the pent- up mucus. Antibiotic is given.
what causes ovarian enlargement in neonates ?
withdrawal of maternal estrogen, there is transient elevation of gonadotropins in neonates. This influence of elevated gonadotropins can stimulate to produce ovarian follicular cysts
what is the treatment for ovarian follicular cysts
usually affect one ovary, do not cause symptoms,
usually regress spontaneously.
As such, the cysts need no surgery unless complicated through torsion
ysts smaller than 5 centimeters in diameter may be monitored with ultrasonography; larger cysts are more likely to cause complications are either drained by percutaneous aspiration or surgically removed.
why are premenarchal girls susceptible to vulvovaginitis ?
hypoestrogenic state of the vagina contributes to the susceptibility of infection-lack of stratification of vaginal epithelium
absence of Doderlein’s bacillus /Staphylococcus epidermidis, diptheroids, lactobacilli and anaerobic bacteria such as bacteroide- vaginal flora
vaginal pH remains high, around 7
Inadequate perineal hygiene
lack of protective pubic hair and fatty pads of labia majora.
causes of vulvovaginitis ?
group a beta-hemolytic Streptococcus pyogenus (7–20% of cases),
Haemophilus influenzae, Streptococcus pneumoniae, Staphylococcus aureus,
RARE
STI organisms if sexually abused (Neisseria gonorrhoeae, Chlamydia trachomatis, Trichomonas vaginalis, herpes simplex virus, and human papillomavirus).
foriegn body - toilet paper
systemic illness - measles/chicken pox
Chemical/irritant (or Allergic) Vulvovaginitis - local irritants such as soaps, bubble bath, nylon underwear, cosmetics,
skin conditions - lichen sclerosis (autoimmune)
Lichen simplex chronicus - LSC can be a primary condition, or secondary as a reaction to another vulvar disease, such as lichen sclerosus or lichen planus. Primary LSC is more common and may be due to exposure to an irritating substance, such as a laundry product, which results in chronic irritation and scratching.
Lichen planus
signs and symptoms of vulvovaginitis ?
diagnosis of vulvovaginitis ?
purulent vaginal or blood stained discharge, irritation, pruritis, maybe dysuria abnormal odor /erythema/ edema
the vulva
lichen sclerosis - pruruitis
vaginal bleeding.
Lesions are small, pink, flat papules that coalesce into plaques that can become atrophic vulva and perianal area
chronic constipation is associated with this
does not affect inside vagina ! or anus!
Lichen simplex chronicus (LSC) -
persistence of an isolated area of pruritis that is fairly well localized on the labial skin
pruritic lichenified plaques that can also cause vaginal bleeding, mainly from excoriation. .
Lichen planus of VULVA AND VAGINA -reticular or lacy white patterns of erosions of the vulva and the oral mucosa.
soreness, burning around the vulva
scar tissue which distores the vagina
Affected patients may complain of hair loss and have a history of papular and puritic lesions on other skin surfaces such as the ankles, dorsal surfaces of the hands, and flexor surfaces of the wrists and forearms.
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vaginal swab culturing
wet mount
treatment for vulvovaginitis ?
neutral pH of the vagina allowsrectal bacteria to overgrow in the vagina and create these symptoms even when there is an attempt at adequate hygiene. These cases are best treated with symptomatic relief with one to two soaks in warm tub water daily and postbath use of a barrier cream such as zinc oxide or another diaper rash ointment
if it doesn’t work - amoxicillin
estrogen cream
if local irritants :
vulvar hygiene kept
daily sitz baths and application of hydrocortisone cream
lichen sclerosis - topical steroids
and treatmnet of constipation - otherwise it gets worst
lichen simplex chronicus - topical steroids and antihistamines to cease the itch-scratch cycle
lichen planus - tapering dose of steroids followed by maintenance barrier creams (i.e. clobetasol propionate ointment twice daily for 2 weeks, followed by fluticasone ointment twice daily for 2 weeks, then alclometasone ointment twice daily for 2 weeks, and lastly hydrocortisone 1% ointment twice daily for 2 weeks).
Foreign body is to be removed followed by use of estrogen therapy
what is precocious puberty?
Precocious puberty occurs when children younger than 8 experience changes indicative of puberty, including development of breast buds (thelarche), pubic hair, menstruation,and a growth spurt.
cause of precocious puberty
central precocious puberty - gonadotropin dependant and premature activation of the hypothalamic-pituitary-ovarian axis eg - hypothalamic hamartomas brain tumours infections - most common tuberculous meningitis radiation hydrocephalus
Peripheral precocious puberty are GnRH independent
from gonads such as ovarian cyst , ovarian tumors (sex chord gonadal tumors that produce estrogen - granulosa cell tumor /thecoma) adrenals - tumors ,
NON CLASSIC congenital adrenal hyperplasia - mild 21b hydroxylase deficiency
germ cell tumor - producing ectopic hCG
exogenous sex hormone exposure
primary hypothyroidism
diagnosis of precocious puberty and treatment
start of menstruaton usually before 10 years in girls
physical examination - hieght , weight - growth spurt
tanner staging - breast formation , pubic hair
blood tests - for LH and FSH , estradiol , testosterone , TSH and free t4
bone age and skeletal maturation
treatment continuous use of GnRH agonists decreases gonadotropins
the neoplasms in premenarchal ?
encountered during this period are usually ovarian tumors
malignant :
Germ cell tumors
Granulosa cell tumor- oestrogen producing causing precocious puberty
Mixed germ cell tumor, dysgerminoma is intermediary in position
benign tumors
cystic teratoma - common
epithelial tumors
what are the causes for abnormal vaginal bleeding
Precocious puberty/Isolated menarche. � Foreign body in the vagina. � Trauma/Infection. � Sexual abuse. � Neoplastic conditions
what is hirsutism ?
is excessive body hair
what is the cause hirtusim
increased level of androgens-
PCOS
adrenocortical carcinoma
congenital adrenal hyperplasia
cushing syndrome
ovarian tumors such as sex chord gonadal stromal tumor - sometimes produce testosterone , mostly estrogen.
insulin, at high enough concentration, stimulates the ovarian theca cells to produce androgen
or an oversensitivity of hair follicles to androgens.
diagnosis of hirtuism?
Ferriman-Gallwey Score which gives a score based on the amount and location of hair growth on a woman
> 8- mild hirtuisim
15- moderate to severe
what is the treatment of hirtuism?
Medications consist mostly of antiandrogens-bicalutamide
spironolactone
what is primary amenorrhea?
Primary amenorrhoea is defined as an absence of secondary sexual characteristics by age 14 with no menarche or normal secondary sexual characteristics but no menarche by 16 years of age
what causes primary amenorrhea?
unbroken hymen
non perforated cervix
asherman syndrome
Vaginal agenesis, or müllerian dysgenesis (also known as Mayer-Rokitansky-Kuster-Hauser [MRKH] syndrome) is caused by agenesis or partial agenesis of the müllerian duct system. It is characterized by congenital aplasia of the uterus and upper two thirds of the vagina in women showing normal development of the secondary sexual characteristics and a normal 46,XX karyotype.. The first sign is primary amenorrhea.
Müllerian agenesis- congenital malformation characterized by a failure of the Müllerian duct to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia
androgen insensitivity syndrome
CAH
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hypergonadotropic hypogonadism - most common
turner syndrome - gonadal dysgenesis increased fsh and LH short stature, congenital cardiac defects webbed neck, coarctation of the aorta (10%), renal abnormalities (50%), hypertension, pigmented nevi, short fourth metocarpal Hashimoto thyroiditis, obesity, and osteoporosis. Depletion of ovarian follicles causes amenorrhea.
(in males it klinefelter syndrome)
secondary gondola insufficiency - due to damage to dleydig or ovarian tissue by pelvic inflammatorydisease , radiation
infection such as mumps and tuberculosis
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hypogonadotropic hypogonadism
Kallmann syndrome - X-linked recessive disorder
prader willi syndrome
gaucher disease
hyperprolactinemia - prolactinoma
hypopituitarism - tumors , infection , radiation
hypothyrodism
low T4 –> inc TRH (hypothalamus)/ TSH (anterior pitutory)–> dec dopamine (inhibitor of prolactin) –> inc prolactin –> dec GnRH –> dec LH + FSH
frolic syndrome - dsytrophy adiposegenitalia
rare childhood metabolic disorder characterized by obesity, growth retardation, and retarded development of the genital organs. It is usually associated with tumours of the hypothalamus, causing increased appetite and depressed secretion of gonadotropin
cushing syndrome - pituitary tumor producing acth
anorexia nervosa
what is the treatment for primary amenorrhea ?
turner syndrome - Uterine maturity -with years of estrogen use
prader willi estrogen and progesterone repayment treatmnet
androgen insensitivity syndrome - testes needs to be removed as it can become cancerous
estrogen pills - people who wish to have female traits
gender assignment
kallman syndrome -
For men: testosterone
For women: estrogen and progesterone combination therapy
Gonadotropins or pulsatile GnRH therapy is used to increase fertility.
hypothyroidism
thyroxine
diagnosis of primary amenorrhea ?
imperative to rule out pregnancy
primary amenorrhea with otherwise normal pubertal development, pelvic examination may help detect imperforate hymen, a transverse vaginal septum, or cervical or uterine aplasia = us
Thin and pale vaginal mucosa with absent rugae is evidence of estrogen deficiency.
The presence of cervical mucus with spinnbarkeit is good evidence of estrogen effect
Measuring the clitoris is an effective method for determining the degree of androgen effect.
Thyroid-stimulating hormone (TSH), b-HCG, prolactin, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) measurements are always the first line of testing. If hirsutism is predominant upon examination, include androgen testing: measure testosterone, dehydroepiandrosterone sulfate (DHEAS), androstenedione, and 17-OH progesterone to determine the organ of cause (e.g. ovary vs adrenal gland).
Genetic testing (karyotype) to determine the person’s genetic makeup
congenital adrenal hyperplasia
All forms of CAH are characterized by low levels of cortisol, high levels of ACTH, and adrenal hyperplasia.
CAH is caused by autosomal recessive defects in enzymes that are responsible for the production of cortisol.
The most common form of CAH is caused by a deficiency of 21β-hydroxylase
clinic presentation of classical and non classic CAH (21b hydroxylase deficiency) ?
classic
salt wasting - severe
and dehydration
Female pseudohermaphroditism: clitoromegaly and/or male external genitalia along with a uterus and ovaries
precocious puberty
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non classic
normal genitaia
Precocious puberty
Virilization - voice deepening, hirsutism, male-pattern hair loss, increased muscle mass
irregular menstrual cycles,
infertility
diagnosis of CAH with 21b hydroxylase
All newbornsscreened for CAH by measuring changes in 17-hydroxyprogesterone levels from a heel prick blood sample.
metabolic acidosis
11 deoxycortisone low
cortisol low
sodium low
postaium high
etiology of cushing syndrome ?
most common - pituitary adenoma - ACTH over production - bilateral adrenal hyperplasia = increase androgen production
clinical features of cushing syndrome ?
Thin, easily bruisable skin with ecchymoses
purple abdominal striae
hyperpigmentation
Delayed wound healing
Neuropsychological: depression
Endocrine and metabolic
Insulin resistance →
central obesity,
moon facies, and a buffalo hump
♀: Decreased libido,
virilization - Hirsutism
Acne
irregular menstrual cycles (e.g., amenorrhea)
Growth delay
Secondary hypertension
diagnosis of cushing syndrome ?
↑ 24-hour urine cortisol
↑ Early morning serum cortisol levels (> 50 nmol/L) following a low-dose dexamethasone suppression tes
and serum acth
CT and MRI of pituitary
treatmnet of cushing ?
Pituitary adenoma: transsphenoidal resection of the pituitary adenoma
suppress cortisol synthesis (e.g., metyrapone, mitotane, ketoconazole)
diagnosis of PCOS?
atleast 2 of the three oligoovulation and/or anovulation excess androgen in blood polycystic ovaries (by gynecologic ultrasound)over 10 small follicles with diameter between 5 to 10 mm along the ovarian periphery ==== increase Testosterone
↑ LH (LH:FSH ratio > 2:1)
Estrogen is normal or slightly elevated
insulin resistance
clinical features of PCOS ?
Menstrual irregularities (primary or secondary amenorrhea, oligomenorrhea)
Difficulties conceiving or infertility
Obesity and possibly other signs of metabolic syndrome
Hirsutism
Androgenic alopecia
Acne vulgaris and oily skin
Acanthosis nigricans: hyperpigmented, velvety plaques (axilla, neck)
path-physio of PCOS?
Reduced insulin sensitivity (peripheral insulin resistance) is present in PCOS, as in metabolic syndrome → hyperinsulinemia
Hyperinsulinemia results in:
=Obesity
=Epidermal hyperplasia and hyperpigmentation (acanthosis nigricans)
= Increased androgen production in ovarian theca cells → imbalance between androgen precursors and the resulting estrogen produced in granulosa cells
=Increased LH secretion disrupts the LH/FSH balance → impaired follicle maturation and anovulation/oligoovulation
=Increased androgen precursor release → virilization and a reactive increase in estrogen production in adipose tissue
=Inhibits the production of SHBG (sex hormone-binding globulin) in the liver → ↑ free androgens and estrogens
treatmnet of PCOS?
The therapeutic approach in PCOS is broadly based on whether or not the patient is seeking treatment for infertility.
If treatment for infertility is not sought:
First-line: weight loss via lifestyle changes
Second-line (as an adjunct): combined oral contraceptive therapy - ncrease sex hormone binding globulin production, which increases binding of free testosterone
If the patient is not overweight: combined oral contraceptive therapy
metformin for insulin resistance
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If seeking treatment for infertility
First-line
Ovulation induction with clomiphene citrate or letrozole
(Clomiphene inhibits hypothalamic estrogen receptors, thereby blocking the normal negative feedback effect of estrogen → increased pulsatile secretion of GnRH → increased FSH and LH, which stimulates ovulation0
If the patient is overweight: advise weight loss
Second-line: ovulation induction with exogenous gonadotropins or laparoscopic ovarian drilling
signs and symptoms of kalmman syndrome
ansomia
- infertility
- cryptoorchidism - failure of descend of testicles
- primary amenorrhea
-absent of pubertal changes breast development and growth spurt!!!!
diagnosis of kallman syndrome?
Clinical presentation
Hormone levels: low levels of GnRH, FSH, LH, estrogen/testosterone (otherwise normal pituitary function)
genetic testing - caused by tweet different gene mutations
clinical feature of androgen insensitivity syndrome ?
a very small penis or an enlarged clitoris
and female breast development
Blind-ended vaginal pouch, uterine and fallopian tube agenesis
Cryptorchid testes: intralabial, inguinal, or abdominal localization of undescended testicles
Scant or no pubic hair
diagnosis of androgen insensitivity syndrome
Before puberty: ↑ testosterone
After puberty: ↑ LH, ↑ estrogen, and normal/↑ testosterone levels (no virilization)
this is due to increased aromatisation of testosterone to estrogen
Genetic testing - x linked recessive = only in males
