Puberty II Flashcards

1
Q

Turner Syndrome

A

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

Can be cause of Primary ovarian failure

Short stature

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2
Q

Causes of Primary ovarian failure

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

Phenotypic characteristics of Turner syndrome

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

Causes of primary testicular failure

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

Klinefelter’s syndrome

A

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
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6
Q

Tx of hypogonadism

A

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

Girls:
E followed by cyclic therapy of E + progesterone

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7
Q

Complete Precocious puberty

A
  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
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8
Q

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

A

Girls: 5%

Boys: 50%

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

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9
Q

Causes of peripheral puberty in girls

A

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
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10
Q

McCune albright syndrome (80)

A

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

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11
Q

Peripheral precocious puberty

A
  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)
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12
Q

SEVERE HYPOTHYROIDISM-Presentation in boys and girls

- Key?

A

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

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13
Q

If bone age is advanced, this suggests what?

A

Long standing sex hormone action and exposure

Evaluate for precocious puberty

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14
Q

GO over evaluation outline of precocious puberty

A
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

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15
Q

tx of central precocious puberty and peripher precocious puberty

A

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

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