Puberty II

Question 1

Turner Syndrome

Answer 1

female 45, XO in 50% or
Mosaics or
Struct. abnormality of X ch.

Can be cause of Primary ovarian failure

Short stature

Question 2

Causes of Primary ovarian failure

Answer 2

1. Turner syndrome
2. XX or XY complete gonadal dysgenesis
3. Galactosemia
4. Radiation
5. Chemotherapy
6. Autoimmune

Question 3

Phenotypic characteristics of Turner syndrome

Answer 3

1. Short stature (100%)
2. Ovarian failure (94%)
3. Hx of otitis (75%)
4. Dysmorphic facies (60%)
5. Cardiovascular (55%)

Question 4

Causes of primary testicular failure

Answer 4

1. Klinefelter’s syndrome
2. Cryptorchidism
3. Testicular regression syndrome
4. Radiation
5. Chemotherapy (alkylating agents)

Question 5

Klinefelter’s syndrome

Answer 5

47, XXY

Hyalinization and fibrosis of seminiferous tubules

Phenotype:

1. microphallus
2. small testes
3. learning dis
4. eunochoid
5. delayed/arrested puberty
6. gynecomastia
7. infertility

Question 6

Tx of hypogonadism

Answer 6

Boys:
T Q3-4 weeks @ low dose –> gradually increase

Girls:
E followed by cyclic therapy of E + progesterone

Question 7

Complete Precocious puberty

Answer 7

1. Early onset and progression of physical development
2. Accelerated linear growth
3. advancement of skeletal age
4. Central (GnRH dependent)
5. Peripheral (GnRH independent)

• If untreated, their skeletal maturation will advance dispropirtionately –>
  early closure of growth plate and end up short as an adult

Question 8

% of time girls and boys central precocious puberty is due to CNS abnormality

Answer 8

Girls: 5%

Boys: 50%

CNS abnormalities: anything that disrupts CNS inhibition of GnRH
- hypothalamic hamartoma

Question 9

Causes of peripheral puberty in girls

Answer 9

Think of where E comes from

1. Ovarian cysts: progression of ovarian follicles to form cysts (make enough E)
   - vaginal bleed with withdrawal of estrogen
2. Granulosa Cell tumor
3. Exogenous estrogens
4. Lavender/tea tree products
5. SEVERE HYPOTHYROIDISM (stim FSH receptors - high E)
   - boys and girls

Question 10

McCune albright syndrome (80)

Answer 10

activating mutation in the a subunit of Gs

Triad of:

1. precocious puberty
2. cafe-au-lait spots
3. Polyostotic fibrous dysplasia

Can also have GH excess, hyperthyroidism, cushings syndrome

Question 11

Peripheral precocious puberty

Answer 11

1. adrenal tumor
2. Leydig cell tumor
   - makes T
3. hCG secreting tumor
   - like LH, which stim leydig cells
4. Late onset CAH
   - high T at very early age (present by age 2)
5. SEVERE HYPOTHYROIDISM
   - TSH is liek FSH
   (stim of seminiferous tubules - big testes, low T)

Question 12

SEVERE HYPOTHYROIDISM-Presentation in boys and girls

- Key?

Answer 12

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

Question 13

If bone age is advanced, this suggests what?

Answer 13

Long standing sex hormone action and exposure

Evaluate for precocious puberty

Question 14

GO over evaluation outline of precocious puberty

Answer 14

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

Question 15

tx of central precocious puberty and peripher precocious puberty

Answer 15

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