Premature/Delayed Puberty

Question 1

GDPP - gonadotropin dependent premature puberty due to

etiology

Answer 1

early pituitary hypothalamic gonadal axis

idiopathic

CNS lesions (harmartomas, astrocytoma, pinealoma, optic+hypothalamic glioma)

CNS irradiation

Genetics (gain of function in Kisspepten 1 and KISS-R, loss of fxn MKRN3)

Primary hypothroidism

Question 1

responsible for facial and body hair

acne

scalp hair loss

prostate growth

Answer 1

DHT

Question 2

primary hypogonadism general pathophys/etiology

secondary

Answer 2

primary: low serum T,

high FSH+LH

secondary: Low serum T, low normal LH+FSH

Question 3

typical pathophys for delayed male puberty

Answer 3

inadequate gonadal steroid secretion

due to defection LH+FSH from anterior pituitary

due to defective production of GnRH from hypo+pituitary

Question 4

secondary male hypogonadism, low T, and or sperm with low or inappropriately LH and LSH indicates _____ work-up

Answer 4

pituitary

Question 5

GIPP - gonadotropin independent premature puberty due to

etiology

Answer 5

excess secretion of sex hormones from gonads, adrenals, exogenous, ectopic production from germ cell tumor

Isosexual (leydig tumors, HcG secreting tumors, dysgerminomas)

Familial Male limted premature puberty - activating LH mutation

Adrenal path - androgen/estrogen secreting tumor, enzyme defects)

Exogenous estrogen

Pituitary gonadtotropin secreting tumomr

McCune Albright syndrome (premature+cafe au lait + bone fibrous dysplasia)

Question 5

if inititial testing reveals GIPP (no elevation of basal LH or with GnRH) then… (testing protocol)

Answer 5

Testosterone, estradiol, LH, FSH, cortisol, DHEA, DHEAS 17

if hCG elevated + tumor in mediastinum > klinefelter karyotype

testicular ultrasound

Question 5

responsible for bone formation

breast tissue

Answer 5

estradiol

Question 7

incomplete premature puberty due to

presentation

Answer 7

increased androgen production

isolated male hormone mediated sexual characterisitcs

Question 8

McCUne albright syndrome

Answer 8

cause of GIPP

premature puberty+cafe au lait + fibrous dysplasia of bone

Question 9

treatment for GIPP

Answer 9

Ressection of adrenal or testi tumor

glucocorticoid therapy for congenital hyperplasia

anti-androgens+ aromatase inhibitor if McCune Albright of familial male limited PP

Question 9

Klinefeltres syndrome presentation and etiology

Answer 9

XXY

loing bone abnl of leg independent to T deficiency
Poor insight+judgement
Impair of higher level linguistics
ADHD
Pulmonary disease
Cancer (germ cell, breast, nonhodgkins)
SLE
DM

Question 11

Treatment GDPP

Answer 11

targeted toward identifiable CNS lesions

(except benign hypothalamic harmotoma)

GnRH agonist

Question 12

if intitial testing reveals GDPP (elevated LH or LH +LSH elevation with GnRH admin) then… (testing protocol)

Answer 12

Pituitary MRI

estrodiol, testosterone, TSH, free T4

GH if prior cranail irradiation

Question 13

Tanner stages

Answer 13

1. prepuberty
2. 12 - enlargement of scrotu+testes, reddening of scrotal skin+texture
3. 13 - growth of penis (length) growth of testes and scrotum
4. 14 - growth of penis (length+girth) darkening of scrotal skin
5. 15 - adult size

Question 15

premature puberty at age

Answer 15

9

Question 16

exam findings indicating Klinefelter karyotyping in pt with GIPP

Answer 16

hCG elevated + tumor in mediastium

Question 17

monitoring for pt being treated for premature puberty

Answer 17

measure LH + sex steroid prior to 2 or 3rd monthly dose (or after change)

measure bone age every 6-12 months

GnRH agonist stimulation test to test for sucess

continue until approx age 12

Question 18

treatment familial male limited PP

Answer 18

spironolactone +

anti-androgen

aromatase inhibitor (testolactone)

Question 20

Familial male limited preamature puberty

Answer 20

cause of GIPP

result of activating mutation in LH receptor

Question 21

Inititial labs and imaging for suspected premature puberty

Answer 21

LH levels (if elevated, GDPP)

if not elevated > stimultate with GnRH > elevated LH and FSH = GDPP)

(lack of increase = GIPP)

Question 22

delayed male puberty =

Answer 22

absence or incomplete 2ndry sex characteristic by >14y