Blueprints Flashcards
(89 cards)
labial fusion is due to what?
excess androgens
what is most common etiology of labial fusion?
EXOGENOUS androgen exposure
What is most common form of enzymatic deficiency –> labial fusion + ____?
21 hydroxylase deficiency which can cause labial fusion and CONGENITAL ADRENAL HYPERPLAISA
Clinical appearance of labial fusion and congenital adrenal hyperplasia?
ambiguous genitalia, hyperandrogenism, salt wasting, hypOtension, hyperkalemia, and hypOglycemia
How to diagnose 21 hydroxylase deficiency?
Either:
- elevated 17a-hydroxyprogesterone
- elevated urine 17-ketosteroid w/ dec serum cortisol
Treatment of 21 hydroxylase deficiency (–> labial fusion and CAH)?
- Exogenous cortisol (helps normalize level + neg feedback to inhib ACTH)
- mineralcorticoid for salt-wasting
- reconstructive surgery for ambiguous genitalia
What is imperforate hymen?
When the epithelial cells in the central portion of the hymenal membrane do NOT degenerate before birth as they are supposed to –> obstruction of outflow tract
What is hydrocolpos/mucocolpos?
Accumulation of fluid due to congenital vaginal obstruction often caused by an imperforate hymen or less commonly a transverse vaginal septum. The fluid often consists of cervical and endometrial mucus
At puberty, Primary amenorrhea + cyclic pelvic pain –> ?
imperforate hyman, transverse vaginal septum, OR vaginal atresia
hematocolpos?
accumulation of menstrual flow in vagina due to imperforate hymen
hematometra?
accumulation of menstrual flow in uterus due to imperforate hymen
Treatment of imperforate hymen?
surgery
Transverse vaginal septum arise bc?
mullerian tubercle does not canalize leaving the vaginal plate intact (supposed to degenerate) ==> the sino-vaginal bulb system and mullerian (paramesonephric) duct system separate (so upper and lower tracts not connected)
Treatment of transverse vaginal septum ?
Surgery
Physical exam of transverse vag septum?
normal external genitalia w/ short vagina that ends in blind pouch
symptoms of transverse vag septum, imperforate hymen, OR vaginal atresia?
primary amenorrhea and cyclic pelvic pain
vaginal atresia aka?
agenesis of the lower vagina
vaginal atresia occurs bc?
urogenital sinus fails to contribute the lower portion of the vegina –> lower vagina fails to develop and is replaced by fibrous tissue.
what is wrong and what is normal in vaginal atresia anatomically?
normal: upper vag, cervix, uterus, and ovaries.
abnormal: lower vag undev and replaced by fibrous tissue
phys exam of pt w/ vag atresia –?
absence of vag introitus w/ vag dimple
Treatment of vag atresia?
Surgery; vaginal pull-through procedure (normal upper vag mucosa brought down to introitus and sutured to hymenal ring)
Mayer-Rokitanksy-Kuster-Hauser syndrome = ?
Vaginal agenesis
Vaginal agenesis =?
congenital absence of the vagina and the absence or hypoplasia of all or part of the cervix, uterus, and fallopian tubes
Whats normal genotypically and phenotypically in pt w/ vag agenesis?
Normal external genitalia, secondary sexual characteristics and ovarian function.
Normal 46XX karyotype