reproductive pathology

Question 1

true hermaphroditism

Answer 1

46,XX or 47, XXY

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

Question 2

double Y males (XYY)

Answer 2

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

Question 3

turner syndrome

Answer 3

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)

Question 4

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

Answer 4

turner syndrome

Question 5

klinefelter syndrome

Answer 5

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

Question 6

XXY

Answer 6

klinefelter syndrome

infertile males with barr body

Question 7

diagnosis for increased LH and increased testosterone?

Answer 7

defective androgen receptor

Question 8

diagnosis for increased testosterone and decreased LH?

Answer 8

testosterone-secreting tumor or exogenous steroids

Question 9

diagnosis for decreased testosterone and increased LH?

Answer 9

primary hypogonadism

Question 10

diagnosis for decreased LH and decreased testosterone?

Answer 10

hypogonadotropic hypogonadism

Question 11

female pseudohermaphrodite (XX)

Answer 11

ovaries are present but the external genitalia are virilized or ambiguous

due to excessive exposure to androgenic steroids during early gestation

Question 12

male pseudohermaphrodite (XY)

Answer 12

testes present but external genitalia are female or ambiguous

most commonly due to androgen insensitivity syndrome (testicular feminization)

Question 13

aromatase deficiency

Answer 13

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

Question 14

androgen insensitivity syndrome (46, XY)

Answer 14

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)

Question 15

5alpha reductase deficiency

Answer 15

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

Question 16

kallmann syndrome

Answer 16

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)