Early and Delayed Puberty Flashcards
years of puberty for boys and girls
girls: 10-14
boys: 12-16
3 peaks of hpg
fetal midgestation
postnatal first 1-6 mos
puberty
hpg status in early childhood to pre-pubertal
dormant, undetectable serum lh and sex hormones
hpg secretion in peripuberty
low in the daytime, increases in amplitude and frequency during sleep
hpg secretion mid-puberty
lh pulses become evident even duing daytime and occur about 90-120 min intervals
hormone sequence in hpt axis
gnrh -> fsh and lh
fsh -> sertoli cells inhibin b
lh -> leydig cells -> testosterone -> estradiol
effects of estradiol
breast development (gynecomastia for males), growth acceleration, skeletal (bone) maturation
role of adrenals in puberty
produce dhea and dhea-s (marker for adrenal androgen secretion)
incerases at 6-8 yo
first changes in females
breast budding (some pubic and axillary hair)
first changes in males
testicular enlargement
breast development stages
1 - prepubertal with no palpable breast tissue
2 - breast bud, elevation of papilla and enlargement of areolar diameter
3 - enlargement without separation of areolar contour
4 - areola and papilla project, forms secondary mound
5 - recession of areola to match contour of breast, papilla projects beyond contour of breast
pubic hair development stages (female)
1 - prepubertal with no pubic hair
2 - sparse, straight hair along lateral vulva, pigmented
3 - darker, coarser, curlier, extends over mid-pubis
4 - adult like but doesnt extend over thighs
5 - adult, from thigh to thigh
external genitalia development (males)
1 - prepubertal
2 - testes and scrotum enlarge, scrotal skin reddens and changes texture
3 - enlargement of penis (length at first)
4 - increased size of penis, development of glans, testes and scrotum become larger, scrotal skin darker
5 - adult
pubic hair development (male)
1 - prepubertal
2 - sparse, straight pubic hair along base of penis
3 - darker, coarser, curlier extending over mid-pubis
4 - adult-like, but not extending to thighs
5 - adult, thigh to thigh
size of beads for comparison for testicular vol
prepubertal: 1-3 ml
pubertal: 4-12 ml
adult: 12-25 ml
girls peak height velocity
tanner stage 2-3
peak height velocity occurs before menarche
boys peak height velocity
tanner stage 4-5
t/f fusion of the epiphyses of the left hand is not a good indicator for further elongation
false, fusion of epiphyses in the left wrist and hand indicates no further elongation should be expected from the patient
___ in females leads to earlier breast development, pubic hair, or menarche
obesity
precocious puberty for f/m
f: before 8 yo
m: before 9 yo
delayed puberty for f/m
f: after 13 yo
m: after 14 yo
features of precocious puberty in girls
before 8 yo breast development (first sign) earlier growth spurt pubic and axillary hair menstruation
features of precocious puberty in boys
before 9 yo
enlargement of testes (first sign)
pigmentation of scrotum and penile growth
pubic and axillary hair, earlier growth spurt, acne and deepened voice
diagnostic tests for precocious puberty
bone age fsh, lh, estradiol for f baseline testosterone for m gnrh stimulation test 17-ohp, tsh, ft4, hcg pelvic and adrenal uts cranial mri/ct
result of gnrh stimulation test in central peripheral puberty
increased lh response
abnormal results of blood tests for precocious puberty
17-ohp: cah
tsh and ft4: thyroid
hcg: gonadotropin secreting tumor
imaging tests for precocious puberty
pelvic and adrenal uts: ovary pathology or adrenal tumor
mri: hypothalamic or pituitary tumor
classification of precocious puberty
central: gonadotropin dependent (true), hpg axis is activated
peripheral: gonadotropin independent
incomplete or partial pubertal development
causes of organic cns/brain lesion
hypothalamic hamartoma
secretory brain tumors
cns infections (encephalitis, tb meningitis)
factors that are more likely organic causes of central pp
boys (75%) and younger boys (< 6 yo)
girls with rapid breast development, estradiol > 30 pg/ml, < 6 yo
clinical manifestations of central pp
intracranial lesions with hypothalamic signs and symptoms visual signs (suggests intracranial headache (upon waking up = more intracranial)
pathophysio of hypothalamic hamartoma
caused by ectopic neural tissue
glial cells produce tgf-b which activated gnrh pulses
signs and symptoms of hypothalamic hamartoma
gelastic or psychomotor seizures
rapid progressive sexual precocity in very young children
types of gonadotropin-secreting tumors
liver, cns, mediastinum, gonads, adrenals
elevated hcg and a-fetoprotein
gonadotropin secreting tumors are more common in ___
boys, 10-20x more
pathophysio of pp hypothyroidism
elevated tsh interacting with fsh receptors affecting bone age
features of pp hypothyroid
f: breast enlargement and menses
m: testicular enlargement, modest or no penile development, no pubic hair
the risk of sexual precocity is _____ to the age of the child at the time radiation was given
inversely proportional (lower age = more pp)
other diseases associated with irradiation of the brain
gh deficiency and hypothyroid
idiopathic precocious puberty is particularly seen in ___
girls, they have pubertal lh response to gnrh stimulation tests
isosexual causes of peripheral pp in f
mccune albright syndrome autonomous ovarian cysts ovarian tumor ovarian follicular cyst granulosa cell tumor exogenous estrogens
heterosexual causes of peripheral pp in f
non-salt wasting cah adrenal tumors ovarian tumors gonadoblastoma sertoli-leydig cell tumors exogenous androgens
triad of mccune albright syndrome
precocious puberty
patchy cutaneous pigmentation
fibrous dysplasia of skeletin
pathophysio of mccune albright syndrome
missense mutation, activation of acth, tsh, fsh, and lh causing autonomous hyperfunction
normal to high estradiol
presentation of virilizing cah in females
due to untreated cah -> hirsutism, advanced bone maturation, compromised adult height
isosexual causes of peripheral pp in m
cah* (can be salt wasting or non salt wasting) adrenocortical tumor leydig cell tumor familial male pp exogenous androgen
heterosexual causes of peripheral pp in m
feminizing adrenocortical tumor
exogenous estrogen
presentation of cah in males
untreated cah -> non-salt wasting -> pubic hair, advanced bone maturation, compromised adult height
salt wasting cah is life threatening
pathophysio of familial male pp
rare autosomal dominant missense mutation of lh receptor -> activation of camp production and leydig cells
features of familial male pp
slightly enlarges testes with leydig cell maturation and hyperplasia
elevated testosterone
lh at prepubertal levels, no pulsatile secretion, no response to stimulation
age of premature pubarche
f: 8
m: 9
f > m
pathophysio of premature pubarche
early maturational event of adrenal androgen production, precocious maturation of zona reticularis, increased basal and acth-stimulated [17-oh pregnenolone, dhea, androstenedione]
causes of premature menarche
common: vulvovaginitis, foreign body, sexual abuse
uncommon: urethral prolapse, sarcoma botryoides
most common cause of medicational precocity
testosterone gels or creams causing virilization of children and women
causes for pp due to prolonged exposure to edc
industrial solvents and their by-products, plasticss (BPA), plasticizers, pesticides
outcomes of untreated pp
increased rate of bone maturation -> early closure of epiphysis, less than expected height, emotional behavior and mood swings
medical therapy for pp
gnrh-agonist therapy injected every 3-4 weeks
levothyroxine for hypothyroid
glucocorticoid for cah
indications for gnrh agonist treatment
most boys with central pp
girls with rapidly progressive precocious puberty
children who are small for gestational age (more aggressive treatment)
types of gonadal dysfunction in delayed puberty
hypergonadotropic hypogonadism (primary - at gonadal level) hypogonadotropic hypogonadism (secondary or tertiary - pituitary or hypoth)
clinical manifestation of delayed puberty
absence of secondary sexual characteristics short stature: turner and prader willi tall stature: klinefelter congenital abnormalities neuro symptoms
an arm span > height suggests ___
delayed epiphyseal closure secondary to hypogonadism
test that differentiates primary, secondary, or tertiary hypogonadism
serum lh and fsh, estradiol (f) testosterone (m)
test that detects hyperprolactinemia
serum prolactin
caused by prolactinoma or hp disorder
test for cns diseases
serum free t4 and low tsh
test that distinguishes between congenital gnrh deficiency and constitutional delay of puberty
adrenal androgen test (serum dhea-s)
gnrh deficiency likely have normal adrenal maturation and normal dhea-s
test for evaluation of klinefelter (m) and turner syndrome (f)
karyotyping
initial screening for delayed puberty
cbc, esr, bun, crea, lft
results of progesterone challenge
(+) withdrawal bleeding: intact outflow tract, functional ovary, pit, and cns, likely due to anovulation
(-) withdrawal bleeding: require administration of hormonal cycle of estrogen with progesterone
imaging for delayed puberty
xray for bone age
pelvic uts: +/- uterus
cranial mri: for neuro and kallman syndrome
non-pathologic causes of delayed puberty
constitutional delay (90%) - malabsorption, underweight, chronic illness, (+) family history
primary pathologic reasons for delayed puberty
high fsh and lh
congenital: turner syndrome (45xo), klinefelter syndrome (47, xxy)
acquired: autoimmune or post infectious disease, trauma/surgery, chemo/rad
secondary pathologic reasons for delayed puberty
low to normal fsh and lh
what is eugonadism
presents with anatomic abnormalities of the target organ or outflow tract, mullerian agenesis, vaginal septum, imperforate hymen, androgen insensitivity
features of turner syndrome
short stature, gonadal dysgenesis -> delay in puberty
features of klinefelter syndrome
tall height, prominent breasts, small testes
