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Flashcards in reproductive pathology Deck (16)
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true hermaphroditism

46,XX or 47, XXY

"ovotesticular disorder of sex development"
both ovary and testicular tissue is present (ovotestis); ambiguous genitalia; rare


double Y males (XYY)

phenotypically normal, very tall, severe acne, antisocial behavior
normal fertility
small % with autism


turner syndrome

XO (female)
short (if untreated), ovarian dysgenesis (streakovary), shield chest, bicuspid aortic valve, preductal coarctation, lymphatic defects, webbed neck, lymphedema, horseshoes kidney
most common cause of primary amenorrhea; no barr body

decreased estrogen leads to increased LH and FSH
(menopause before menarche)


45, XO or 45,XO/46,XX mosaicism

turner syndrome


klinefelter syndrome

male, XXY
testicular atrophy, tall, long extremities, gynecomastia, female hair distribution,
presence of barr body (inactivated X chromosome)
common cause of hypogonadism/infertility

dysgenesis of seminiferous tubules --> decreased inhibin --> increased FSH
abnormal leydig cells --> decreased testosterone and increased LH and estrogen



klinefelter syndrome
infertile males with barr body


diagnosis for increased LH and increased testosterone?

defective androgen receptor


diagnosis for increased testosterone and decreased LH?

testosterone-secreting tumor or exogenous steroids


diagnosis for decreased testosterone and increased LH?

primary hypogonadism


diagnosis for decreased LH and decreased testosterone?

hypogonadotropic hypogonadism


female pseudohermaphrodite (XX)

ovaries are present but the external genitalia are virilized or ambiguous

due to excessive exposure to androgenic steroids during early gestation


male pseudohermaphrodite (XY)

testes present but external genitalia are female or ambiguous

most commonly due to androgen insensitivity syndrome (testicular feminization)


aromatase deficiency

inability to synthesize estrogens from androgens

masculinization of female (46, XX) infants (ambiguous genitalia), and increased serum testosterone and androstenedione

can present with maternal virilization during pregnancy if fetal androgens cross placenta


androgen insensitivity syndrome (46, XY)

defective androgen receptor resulting in a normal appearing female; female external genitalia with rudimentary vagina; absent uterus and fallopian tubes; presents with scant sexual hair and develops testes in labia majora

increased testosterone, estrogen, and LH (vs sex chromosomes disorders)


5alpha reductase deficiency

AR, inability to convert T to DHT
sex limited to genetic males (46, XY)
ambiguous genitalia until puberty when increased T causes masculinization and growth of external genitalia
normal internal genitalia

Testosterone and estrogen levels are normal; LH is normal or increased


kallmann syndrome

failure to complete puberty, a form of hypogonadotropic hypogonadism

defective migration of GnRH cells and formation of olfactory bulb; decreased GnRH synthesis in the hypothalamus; anosmia

decreased GnRH, FSH, LH, T, and infertility (low sperm count in males and amenorrhea in women)