Gyn-Ics-Delayed And Precocious Puberty

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def of Constitutional Delayed Puberty

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-transiently GH deficient, although GH incrase normally when puberty finally occurs
-distinguish from fixed, incomplete GH deficiency or pathologic hypogonadotropic states by doing longitudional eval

Features:
a. puberty not delayed beyond 16 in girls, 18 in boys
b. bone age retarded appropriately for delay in puberty (Semo: not just constitutionally delayed puberty if bone age is old and they still haven't started puberty--that means they won't grow as much)

c. prepubertal growth slows as puberty is delayed
d. Endocrine parameters similar to gonadotropin def
e. puberty progression and linear growth eventaully advance normally
f. genetic height potential acheived
g. no underlying pathologic disorder

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clinical eval of Delayed Puberty

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1. Hx should focus on disorders that can retard growth, i.e. early childhood illness, cancer therapy, undernutrition
2. PE should pay attention to evidence of stigmata of syndromes and neurological abnormalities:
once testicular enlargement and breast budding occur (the first signs of true puberty), puberty progesses to completion in 95% cases
3. gonadotropin levels during sleep (when bone age is approrpiate for puberty:11 in girls, 12 in boys), can distinguish b/w gonadotropin deficiency and constitutional delay

Front 3

how distinguish b/w gonadotropin deficiency and constitutional delay

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frequent sampling of gonadotropin levels DURING SLEEP

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DDx for hypogonadotropic d/o

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1. Neoplasms and inflammatory d/o can cause precocious or delayed puberty
*Craniopharyngioma=MC neoplasm assoc w/hypo=pit dysfxn

2. Kallman syndrome (uncommon)
-X-linked, boys (mneum: kallMAN=affects BOYS, X-linked)
-olfactory tract hypoplsia==>
GnRH neurosecretory cells can't migrate from olfactory placode to arcute nucleus of hypo

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craniopharyngioma

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=MC neoplasm assoc w/hypo=pit dysfxn
-tumor of Rathke's pouch
-originates from pituitary stalk and prevents hypothalamic releasing hormones from reaching pituitary
-skull X-ray shows calcifications in suprasellar region (where pituitary sits)

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DDx- hypergonadotropic hypogonadism

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1.Turner's
*MC sex chromosome abnl in females
-partial deletions of long arm of X chrom==>ovarian failure
-pterygium colli (webbed neck)
-coarctation of Ao

2. 17-alpha-hydroxylase def (First Aid-p. 263); can't shift to pathway to synthesize sex hormones

3. Klinefelters
*MCC male hypogonadism
-small, firm tests
-gynecomastia
-eunuchoid body habitus (decreased upper/lower body ratio; increased arm span)
-Ao valvular dz
-berry aneurysms
-breast CA

Front 7

Tx Turner's

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GH + low dose anabolic steroids (oxandrolone)

[Note: this is what body builders like Arnold Schwartzennegger do to increase growth]

Front 8

def of precocious puberty

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dev of any signs of secondary sex maturation before 8 in girls, 9 in boys

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true complete isosexual precocity

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-premature activation of hypo-pit-ovarian axis
-nl sequence of pubertal changes
-precocious puberty often d/t Hypothalamic Hamartomas (neoplasms of neurosecretory neurons that produce ectopic GnRH)

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pseudoprecocious puberty

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event initiating puberty is independent of hypothalamic activation;
(vs. precocious puberty=early activation of hypothal-pit-gonadal axis)

-i.e. girls: estrogen production: exogenous, estrogen-producing tumor of ovary (granulosa-theca cell tumor)

1. girls: McCune-Albright (Polyostotic Fibrous Dysplasia)
-follicle cyst development and estradiol production occur independent of gonadotropins
-presenting compliant=vaginal bleeding
*sex preocity
*mult cystic bone lesions prone to fracture
*cafe au lait spots

-Tx: testolactone- inhibits aromatase enzyme that catalizes formation of estrogens

2. male: familial testotoxicosis
*auto dom
*testicular enlargement and maturation of Leydig cells despite no gonadotropin secretion

Tx:
-Tx: testolactone (anti-aromatase) PLUS
spironolactone (anti-androgen)


3. Extreme primary hypothryoidism: high levels of TRH (in response to thyroid dysfxn) stim gonadotropin secretion

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contrasexual precocity

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-dev of secondary char of opposite sex

Ex.. CAH:
-MCC female pseudohermaphroditism
-MC deffect= 21 hyroxylase enzyme, which catalyzes conversion of 17-hydroxyprogesterone to 11-deoxycortisol

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testing procedures for precocious puberty

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Radiological:
1. skull film
2. serial bone age
3. MRI or CT of brain, esp hypo and sella tursica
4. MRI, CT, or ultrasound of abdomen, pelvis, or adrenal gland

Lab:
1. LH, FSH, hCG (test for pregnancy!
2. DHEAS, androstenedione levels
3. 17-hydroxyprogsesterone, 11-deoxycortisol levels (checks for 21B hydroxylase deficiency, which causes CAH)
4. estradiol, test levels
5. thryroid fxn tests
6. PRL level
7. ACTH stim test
8. GnRH stim test: administer IV GnRH and measure LH/FSH secretion (high serum LH indicates central activation)
9. EEG
10. Visual field testing

Front 13

how Tx true idiopathic precocity

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1. GnRH analogs
*block native GnRH by down-reg GnRH receptors on cell
*slows accelerated height velocity and Sk maturation by reducing GH and IGF-1

2. add low-dose estrogen to maintain nl childhood growth rates without promoting Sk mturation (GnRH alone can impaire nl pre-pubertal growth rates)

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how Tx CNS lesion

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surgery, radiation

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Tx ovarian and adrenal tumors

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surgery

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Tx McCune albright

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testolactone (aromatase inhibitor)

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Tx familial testotoxicosis

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Familial testotoxicosis=
*auto-dom
*precocious puberty in males
*enlarged testes and seminiferous tubules despite absent gonadotropin secretion

Tx:
spironolactone(anti-androgen)

+

testolactone (aromatase inhbitor)