Reproductive Diseases

Question 1

N. Adolescent girl presents with late menarche, minimal breast development, abnormal ovarian development , high FSH, short stature with webbed neck, what’s your diagnosis?

Answer 1

Turner syndrome (45,x0 )

Question 2

N. What’s the most common syndrome known to cause primary hypogonadism in men?

Answer 2

Klinefelter syndrome 47xxy ( tall stature, small testes, developmental delay, socializing difficulties )

Question 3

N. Name the syndrome that causes secondary hypogonadism in men ?

Answer 3

Kallman syndrome ( ass. with anosmia )

Question 4

N. What’s the best time during the day to measure testesterone?

Answer 4

8 am for 2 days ➡️ then LH is measured to distinguish 1ry from 2ry hypogonadism

Question 5

N. What’s the preferred route for testosterone therapy?

Answer 5

Patch or injection

Question 6

N. Congenital adrenal hyperplasia is an autosomal…….. and there’s enzyme deficiency in zona……in adrenal cortex

Answer 6

AR, zona fasiculata,

Question 7

N. Name the 3 forms of genital hyperplasia and which one is most common ?

Answer 7

21-hydroxylase deficiency ( ⬆️androgen, ⬇️ mineralocorticoid) it’s the most common, then 11-beta hydroxylase deficiency ( ⬆️ androgen , ⬆️ mineralocorticoid) , 17-alpha hydroxylase deficiency ( ⬇️ androgen, ⬆️ mineralocorticoid)