Reproductive Pathology Flashcards
Testicular atrophy, enuchoid body shape, tall, long extremities, gynecomastia, female hair distribution
Klinefelter Syndrome (47XXY). Presence of inactivation of X chromosome–Barr body. Infertility. Dygenesis of seminiferous tubules–decreased inhibin, increased FSH. Abnormal Leydig cell function–decreased testosterone, increased LH, increased estrogen.
Short stature, streak ovary, shield chest, bicuspid aortic valve, preductal coarctation, webbed neck, cystic hygroma, lymphedema, horseshoe kidney
Turner (45XO or 45XO/46XX mosaic) syndrome. Most common cause of primary amennorhea. Menopause before menarche (decreased estrogen–>increased LH, FSH).
phenotypically normal males, very tall, severe acne, with antisocial behavior, possible autism
Double Y males 47XYY
true hermaphroditism
46XX or 47XXY–very rare
ovaries present but external genitalia are virilized or ambiguous
Congenital adrenal hyperplasia, early and excessive exposure to androgens
Testes present but external genitalia are female or ambiguous
most commonly androgen insensitivity syndrome
masculinization of female (46XX) infants with increased serum testosterone and androsteonedione
Aromatase deficiency. Fetal androgens can cross placenta and cause maternal virilization
normal appearing female, female external genitalia usually underdeveloped vagine, uterus/fallopian tubes generally absent, testes usually found in labia majora
Androgen insensitivity syndrome (46XY). Increased testosterone, estrogen, and LH (vs sex chromosome disorders).
male ambiguous genitalia until puberty
5alpha-reductase deficiency–autosomal recessive 46XY, cannot convert testosterone to DHT; normal testoterone/estrogen levels, LH is normal or increased, internal genitalia are normal
failure to complete puberty, anosmia, infertility
Kallman syndrome–form of hypogonadotropic hypogonadism; defective migration of GnRH cells and formation of olfactory bulb–>decreased synthesis of GnRH (hypothalamus)–>decreased FSH, LH–>decreased testosterone–>infertility (low sperm count, amenorrhea)
Complete Mole
46XX or 46XY, super high hCG, increased uterine size, can convert to choriocarcinoma, no fetal parts, enucleated egg+single sperm that subsquently duplicates, malignant trophoblastic disease, vaginal bleeding/large uterus/hyperemesis/pre-eclampsia/hyperthyroidism; honeycombed uterus/clusters of grapes/snowstorm on ultrasound
Partial Mole
69XXX/XXY/XYY; slightly high hCG; fetal parts; 2 sperm 1 egg; low risk of malignancy; vaginal bleeding/pain; see fetal parts on US
treatment of gestational HTN
alpha-methyldopa, labetalol, hydralazine, nifedipine, deliver at 39 weeks
hypertension > 140/90 with proteinuria after 20th week of gestation
Pre-eclampsia–abnormal placental spiral arteries (oliguria, elevated AST/ALT, thrombocytopenia)–Tx with antiHTN, deliver 34 weeks/37 weeks, IV MgSO4 to prevent seizures
Pre-eclampsia < 20 weeks gestation
suggestive of molar pregnancy
Eclampsia
Preeclampsia + maternal seizures–death due to stroke, intracranial hemorrhage, ARDS
HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets–manifestation of severe preeclampsia
history of amennorhea, lower than expected rise in hCG
ectopic pregnancy–RFs: hx of infertility, PID, ruptured appendix, prior tubal sugery
HPV types associated with cervical cancer
HPV 16/18 produce E6 and E7 gene products which inhibit p53 and Rb (tumor supressors) respectively
ectopic endometrial tissue surrounded by muscle fibers of abdominal wall
Endometriosis: cyclic pelvic pain, bleeding, dysmennorhea, dyspareunia, dyschezia, infertility, normal sized uterus; Tx with NSAIDS, OCPs, progestins, GnRH agonists, surgery
uniformly enlarged, soft, globular uterus w/ dysmenorrhea, menorrhagia
Adenomyosis: extension of endometrial tissue (glandular) into uterine myometrium (hyperplasia of basalis layer of endometrium); hysterectomy
decreased estrogen, increased FSH/LH before age of 40
premature ovarian failure
amenorrhea/oligomenorrhea, hirsutism, acne, infertility, obesity
PCOS: hyperandrogenism due to deranged steroid synthesis by theca cells, hyperinsulinemia; increased LH/FSH (3:1), increased testosterone, increased estrogen; most common cause of infertility in women
Tx of PCOS
hirsutism/acne: weight reduction, OCPs, antiandrogens; infertility (clomiphene citrate, metformin); endometrial protection: cyclic progesterones
