Puberty II Flashcards
Turner Syndrome
female 45, XO in 50% or
Mosaics or
Struct. abnormality of X ch.
Can be cause of Primary ovarian failure
Short stature
Causes of Primary ovarian failure
- Turner syndrome
- XX or XY complete gonadal dysgenesis
- Galactosemia
- Radiation
- Chemotherapy
- Autoimmune
Phenotypic characteristics of Turner syndrome
- Short stature (100%)
- Ovarian failure (94%)
- Hx of otitis (75%)
- Dysmorphic facies (60%)
- Cardiovascular (55%)
Causes of primary testicular failure
- Klinefelter’s syndrome
- Cryptorchidism
- Testicular regression syndrome
- Radiation
- Chemotherapy (alkylating agents)
Klinefelter’s syndrome
47, XXY
Hyalinization and fibrosis of seminiferous tubules
Phenotype:
- microphallus
- small testes
- learning dis
- eunochoid
- delayed/arrested puberty
- gynecomastia
- infertility
Tx of hypogonadism
Boys:
T Q3-4 weeks @ low dose –> gradually increase
Girls:
E followed by cyclic therapy of E + progesterone
Complete Precocious puberty
- Early onset and progression of physical development
- Accelerated linear growth
- advancement of skeletal age
- Central (GnRH dependent)
- Peripheral (GnRH independent)
- If untreated, their skeletal maturation will advance dispropirtionately –>
early closure of growth plate and end up short as an adult
% of time girls and boys central precocious puberty is due to CNS abnormality
Girls: 5%
Boys: 50%
CNS abnormalities: anything that disrupts CNS inhibition of GnRH
- hypothalamic hamartoma
Causes of peripheral puberty in girls
Think of where E comes from
- Ovarian cysts: progression of ovarian follicles to form cysts (make enough E)
- vaginal bleed with withdrawal of estrogen - Granulosa Cell tumor
- Exogenous estrogens
- Lavender/tea tree products
- SEVERE HYPOTHYROIDISM (stim FSH receptors - high E)
- boys and girls
McCune albright syndrome (80)
activating mutation in the a subunit of Gs
Triad of:
- precocious puberty
- cafe-au-lait spots
- Polyostotic fibrous dysplasia
Can also have GH excess, hyperthyroidism, cushings syndrome
Peripheral precocious puberty
- adrenal tumor
- Leydig cell tumor
- makes T - hCG secreting tumor
- like LH, which stim leydig cells - Late onset CAH
- high T at very early age (present by age 2) - SEVERE HYPOTHYROIDISM
- TSH is liek FSH
(stim of seminiferous tubules - big testes, low T)
SEVERE HYPOTHYROIDISM-Presentation in boys and girls
- Key?
Cause of peripheral puberty in both or girls
- TSH is like FSH
Boys: testicular enlargement (stim of seminiferous tubules
Girls: breast development
Key is delayed bone age and poor linear growth
If bone age is advanced, this suggests what?
Long standing sex hormone action and exposure
Evaluate for precocious puberty
GO over evaluation outline of precocious puberty
Random LH + FSH --> Prepubertal LH --> GnRH stimulation test --> Prepubertal LH --> Peripheral precocious puberty - if GnRH stim test shows pubertal LH it is Central percocious puberty --> Do MRI
Random LH + FSH –>
Pubertal LH lvl –>
Central precocious puberty –>
Central MRI
tx of central precocious puberty and peripher precocious puberty
central precocious puberty
- GnRH analog (lupron/supprelin): down reg pit GnRH receptors and secretion
peripher precocious puberty: Depend on cause
Ovarian cyst: watchful waiting w/ US
