Premature/Delayed Puberty Flashcards
GDPP - gonadotropin dependent premature puberty due to
etiology
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
responsible for facial and body hair
acne
scalp hair loss
prostate growth
DHT
primary hypogonadism general pathophys/etiology
secondary
primary: low serum T,
high FSH+LH
secondary: Low serum T, low normal LH+FSH
typical pathophys for delayed male puberty
inadequate gonadal steroid secretion
due to defection LH+FSH from anterior pituitary
due to defective production of GnRH from hypo+pituitary
secondary male hypogonadism, low T, and or sperm with low or inappropriately LH and LSH indicates _____ work-up
pituitary
GIPP - gonadotropin independent premature puberty due to
etiology
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)
if inititial testing reveals GIPP (no elevation of basal LH or with GnRH) then… (testing protocol)
Testosterone, estradiol, LH, FSH, cortisol, DHEA, DHEAS 17
if hCG elevated + tumor in mediastinum > klinefelter karyotype
testicular ultrasound
responsible for bone formation
breast tissue
estradiol
incomplete premature puberty due to
presentation
increased androgen production
isolated male hormone mediated sexual characterisitcs
McCUne albright syndrome
cause of GIPP
premature puberty+cafe au lait + fibrous dysplasia of bone
treatment for GIPP
Ressection of adrenal or testi tumor
glucocorticoid therapy for congenital hyperplasia
anti-androgens+ aromatase inhibitor if McCune Albright of familial male limited PP
Klinefeltres syndrome presentation and etiology
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
Treatment GDPP
targeted toward identifiable CNS lesions
(except benign hypothalamic harmotoma)
GnRH agonist
if intitial testing reveals GDPP (elevated LH or LH +LSH elevation with GnRH admin) then… (testing protocol)
Pituitary MRI
estrodiol, testosterone, TSH, free T4
GH if prior cranail irradiation
Tanner stages
- prepuberty
- 12 - enlargement of scrotu+testes, reddening of scrotal skin+texture
- 13 - growth of penis (length) growth of testes and scrotum
- 14 - growth of penis (length+girth) darkening of scrotal skin
- 15 - adult size
premature puberty at age
9
exam findings indicating Klinefelter karyotyping in pt with GIPP
hCG elevated + tumor in mediastium
monitoring for pt being treated for premature puberty
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
treatment familial male limited PP
spironolactone +
anti-androgen
aromatase inhibitor (testolactone)
Familial male limited preamature puberty
cause of GIPP
result of activating mutation in LH receptor
Inititial labs and imaging for suspected premature puberty
LH levels (if elevated, GDPP)
if not elevated > stimultate with GnRH > elevated LH and FSH = GDPP)
(lack of increase = GIPP)
delayed male puberty =
absence or incomplete 2ndry sex characteristic by >14y
