Pathology - repro Flashcards
Klinefelter syndrome (47, XXY)
hypogonadism! testicular atrophy, gynecomastia
abnormal seminiferous tubules and abnormal Leydig cell function (low inhibin, low testosterone), leads to increased FSH/LH, incr. estrogen
Barr body present
Turner syndrome (45, XO)
female, short stature w. primary amenorrhea (most common)
no Barr body
menopause before menarche, decr. estrogen leads to incr. FSH/LH
pregnancy is possible w/ oocyte donation and exogenous estradiol/progesterone
Aromatase deficiency
No estrogen synthesis
Masculinization of female infants, incr. serum testosterone, incr. serum androstenedione
Can present with maternal virilization during pregnancy
Androgen insensitivity syndrome (46, XY)
Defect in androgen receptor
Normal-appearing female with female external genitalia, no uterus/fallopian tubes
testes are surgically removed to prevent malignancy
incr. testosterone, estrogen and LH
5a reductase deficiency
no testosterone –> DHT
ambiguous genitalia until puberty, incr. testosterone causes masculinization
normal internal genitalia (testosterone intact)
Kallmann syndrome
defective migration of GnRH cells and defective development of olfactory bulb
decr. synthesis of GnRH in the hypothalamus, decr. FSH/LH/testosterone
infertility in males and females
Complete mole
46, very high hCG, enucleated egg + single sperm (duplicated paternal sperm), elevated risk of malignant disease, lots of maternal symptoms
honeycombed uterus (clusters of grapes)
Partial mole
69 chromosomes, fetal parts present, 2 sperm + 1 egg, low risk of malignancy
Treatment for gestational hypertension
alpha-methyldopa, labetalol, hydralazine, nifedipine
Cause of pre-eclampsia
Abnormal placental spiral arteries, leads to endothelial dysfunction, vasoconstriction, ischemia
Look for proteinuria or end-organ dysfunction after 20th week of pregnancy
Complications of pre-eclampsia
Placental abruption Coagulopathy Renal failure Uteroplacental insufficiency Eclampsia
Causes of death in eclampsia
stroke, intracranial hemorrhage, ARDS
HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets
Look for schistocytes
Rupture of subcapsular liver hematomas can lead to severe hypotension
Placenta accreta vs. increta vs. percreta
accreta - attachment to myometrium (no penetration)
increta - placenta penetrates into myometrium
percreta - placenta perforates through myometrium and into serosa
Vasa previa triad
Membrane rupture, painless vaginal bleeding, fetal bradycardia