Pathology 1 Flashcards
(31 cards)
XXY, testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia
Klinefelter Syndrome
Heart anomaly of Turner Syndrome
Bicuspid aortic valve; preductal coarctation
Webbed neck or cystic hygroma
Turner Syndrome (XO)
Most common cause of Primary amenorrhea
Turner Syndrome (XO)
Kidney problems associated with Turner Syndrome
Horseshoe Kidney
Pregnancy in Turner Syndrome
need oocyte donation, exogenous estradiol-17beta and progesterone
Phenotypically normal, very tall, severe acne, antisocial behavior; Normal fertility; Men
XYY
Both ovary and testicular tissue present; ambiguous genitalia
True hermaphroditism (46, XX or 47,XXY)
Increase in both Testosterone and LH
Defective androgen receptor
Increase in Testosterone and decrease LH
Testosterone-secreting tumor, exogenous steroids
Decrease in Testosterone and increase LH
Primary hypogonadism
Decrease in both Testosterone and LH
Hypogonadotropic Hypogonadism
Ovaries present, but external genitalia are virilized or ambiguous. Excessive and inappropriate exposure to androgenic steroids during early gestation
Femal pseudohermaphrodite (XX)
Testes present, external genitalia are female or ambiguous. Most common form is androgen insensitivity syndrome (testicular feminization)
Male pseudohermaphrodite (XY)
Inability to synthesize estrogens from androgens. Masculinization of female infants and increase serum testosterone and androstenedione.
Aromatase Deficiency
Defect in androgen receptor resulting in normal-appearingfemale; female external genitalia with rudimentary vagina; uterus and fallopian tubes generally absent
Androgen Insensitivity Syndrome (46, XY)
Inability to convert testosterone to DHT. Ambiguous genitalia until puberty, when increase testosterone causes masculinization/increase growth of external genitalia; testosterone/estrogen levels are normal
5alpha-reductase deficiency
Failure of complete puberty; a form of hypogonadotropic hypogonadism. Defective migration of GnRH cells and formation of olfactory bulb; anosmia & infertility
Kallmann Syndrome
Fetal Parts
Partial Hydatidiform Mole, low hCG, 2sperm +1egg
69XXX, XXY, XYY
Incredibly high hCG, increased uterine size, Honeycombed uterus or “clusters of grapes”
Complete Hydatidiform Mole, enucleated egg + 1 sperm
46,XX or XY
“snowstorm” on Ultrasound
Complete Hydatidiform Mole, 46,XX or XY
Tx of hydatidiform mole
D&C and methotrexate
Benign warty growth on genital skin
Condyloma Acuminatum HPV6 or 11
Necrotizing granulomatous inflammation of inguinal LN; eventually heals with fibrosis
Lymphogranuloma venereum (L1-3 C. trachomatis)
