Male Abnormal Puberty

Question 1

classic clinical presentation of McCune-Albright syndrome

Answer 1

cafe-au-lait spots (unilateral), polystotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

Question 2

treatment for precocious puberty

Answer 2

leuprolide (GnRH analog that acts as an antagonist if given continuously)

Question 3

what is the first test to order if you suspect precocious puberty?

Answer 3

basal LH levels

Question 4

Klinefelter syndrome: pathogenesis, clinical presentation, lab findings

Answer 4

47,XXY: presence of inactivated X chromosome (Barr body); testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution; may present with developmental delay
lab findings: low testosterone, increased FSH, LH and estrogen

Question 5

decreased testosterone with low/inappropriately normal FSH and LH –> next step?

Answer 5

pituitary work up

Question 6

Kallman syndrome: pathogenesis, lab findings

Answer 6

type of hypogonadotropic hypogonadism, failure to complete puberty; defective migration of GnRH cells and formation of olfactory bulb; decreased synthesis of GnRH in the hypothalamus; anosmia; infertility (low sperm count in males, amenorrhea in women)
lab findings: decreased GnRH, FSH, LH, testosterone