021615 congenital anomalies of GU tract

Question 1

features of undervirilized males

Answer 1

small phallus
hypospadias
cryptorchidism
bifid scrotum
absence of scrotal rugation

Question 2

features of virilized female

Answer 2

clitoromegaly
common UG sinus
fused labioscrotal folds
rugated labioscrotal folds

Question 3

most common cause of 46 XX DSD

Answer 3

21 hydroxylase deficiency (testos and DHT are increased)

Question 4

50% of cases of 46XY are due to

Answer 4

idiopathic

Question 5

ovotesticular DSD

Answer 5

both ovarian and testicular tissue with normal responsiveness to hormones

karyotype: 46XX, 46XY, 46XX/XY

fertility is uncommon

Question 6

complete androgen insensitivity syndrome-problem is mainly for

Answer 6

males (XY)

Question 7

what would you see in puberty for complete androgen insensit syndrome

Answer 7

feminizing puberty without menses (breast development b/c of excess testosterone)

Question 8

DHT is critical for

Answer 8

virilization prior to birth (testos is critical at puberty)

Question 9

in CAH, what amts of androgens are produced?

Answer 9

no testicular androgens but excessive adrenal androgens are produced

Question 10

why do Wolffian ducts regress in CAH in 46 XX?

Answer 10

b/c there’s no excess LOCAL androgens