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Endo Repro Exam > Problems of Puberty > Flashcards

Problems of Puberty Flashcards

1
Q

puberty - defined

A

*a complex series of physical changes (secondary sex characteristics)
*transition to sexual maturity (when reproduction is possible)
*activation of gonads by pituitary hormones → estrogen/testosterone production

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2
Q

adrenarche - defined

A

*activation of adrenal glands to make androgens

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3
Q

thelarche - defined

A

*onset of breast development

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4
Q

pubarche - defined

A

*onset of pubic hair development

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5
Q

menarche - defined

A

*onset of menstrual cycles

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6
Q

key players & hormones in puberty

A
  1. hypothalamus → gonadotropin releasing hormone (GnRH)
  2. pituitary gland → luteinizing hormone (LH) & follicle-stimulating hormone (FSH)
  3. gonads (ovary/testis) → estradiol (E2) or testosterone (T)
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7
Q

hypothalamic-pituitary-gonadal axis & puberty

A

*hypothalamus releases GnRH → stimulates pituitary to release LH & FSH → stimulates gonads (ovaries/testes) to release estradiol or testosterone
*activation of the GnRH pulse generator stimulates the pubertal axis
*TONIC GnRH suppresses the pubertal axis

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8
Q

Tanner Pubertal Staging - breasts

A

*Tanner 1: pre-pubertal
*Tanner 2: palpable breast bud
*Tanner 3: breast tissue extending beyond areola
*Tanner 4: areola expands and creates a secondary mound
*Tanner 5: adult female contour with enlarged areola

note - PALPATION is crucial for this, not just visualization

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9
Q

first sign of normal puberty in most females

A

*thelarche (breast development)

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10
Q

first sign of normal puberty in most males

A

*testicular enlargement

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11
Q

Tanner Pubertal Staging - testicles

A

*Tanner 1: < 2
*Tanner 2: 4-8
*Tanner 3: 9-12
*Tanner 4: 12-20
*Tanner 5: > 20

note - this is measured in volume (mL); uses beads

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12
Q

Tanner Pubertal Staging - pubic hair

A

*Tanner 1: pre-pubertal / no hair, +/- vellus hair
*Tanner 2: scant, coarse hair along labia majora or scrotum
*Tanner 3: increasing, now curling hair on mons pubis
*Tanner 4: increasing hair with lateral spread
*Tanner 5: hair spreading to medial thighs, adult quantity

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13
Q

precocious (early) puberty - defined

A

*puberty is too early in:
-girls younger than 8
-boys younger than 9

recall: earliest signs are breast development / testicular enlargement

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14
Q

delayed puberty - defined

A

*puberty is delayed in patients with no signs of puberty in:
-girls 13+
-boys 14+

recall: earliest signs are breast development / testicular enlargement

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15
Q

important pubertal milestones - females

A

*peak growth spurt velocity: ~ 1 year after breast budding
*onset of menses: 2.4 years after breast budding

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16
Q

important pubertal milestones - males

A

*peak growth spurt velocity: ~ 2.5 years after testicular enlargement begins

17
Q

growth in puberty - overview

A

*ESTROGEN (+ testosterone converted to estrogen by enzyme aromatase) affects skeletal maturation and augments growth hormone secretion
*females start and finish growing earlier, peak growth velocity is lower

18
Q

precocious puberty - epidemiology

A

*1 in 5-10K
*strong female predominance
*CNS tumors are more common in males with early puberty

19
Q

general causes of precocious (early) puberty

A
  1. something triggers early LH/FSH production
    OR
  2. children are exposed to estradiol and testosterone action by some other mechanism

*central (from pituitary gland): idiopathic, CNS tumor / malformation
*peripheral (from somewhere else): McCune-Albright Syndrome, gonadal cyst/tumor, adrenal source, exogenous testosterone / estradiol exposure

20
Q

central vs. peripheral precocious puberty

A

*central: normal sequence of pubertal events, normal timing / tempo

*peripheral: abnormal sequence of pubertal events, rapid timing / tempo

21
Q

diagnostic evaluation of early puberty - LABS

A

*LH
*FSH
*estradiol or testosterone
*depending on exam, consider 17-hydroxyprogesterone, DHEA-S, androstenedione, thyroid studies to assess for other peripheral causes of early puberty

22
Q

diagnostic evaluation of early puberty - IMAGING

A

*bone age x-ray first
*consider MRI of pituitary gland if LH/FSH are elevated

23
Q

bone age x-ray

A

*hand x-ray to evaluate maturity of growth centers
*estrogen matures growth centers, so early exposure causes growth centers to appear older than the child’s chronological age
*plotting height (growth chart) by bone age gives a better prediction of height potential

24
Q

management of central precocious puberty

A
  1. idiopathic central precocious puberty:
    -GnRH analog injection (recall: continual/tonic release of GnRH suppresses the pubertal axis)
  2. CNS tumors:
    -hamartoma: treat with GnRH analogue
    -other: referral for surgery, radiation, chemotherapy

*treatment goals:
-prevent compromise of final adult height
-prevent continued advancement of puberty and menses
-minimize psychosocial impact of early puberty

25
Q

McCune-Albright Syndrome - classic findings

A

*polyostotic fibrous dysplasia
*cafe au lait lesions
*precocious puberty
*multiple endocrinopathies

26
Q

McCune-Albright Syndrome - genetics

A

*post-zygotic/somatic mutation of GNAS gene resulting in activation of G-protein signaling

27
Q

McCune-Albright Syndrome - mosaicism

A

*classic example of mosaicism
*genetically distinct cell lines in the same individual
*patients have heterogenous clinical manifestations depending on tissue expression

28
Q

McCune-Albright Syndrome - management

A
  1. puberty management:
    -aromatase inhibitors
    -E2 receptor blocker
  2. treatment as needed for:
    -bone lesions
    -hyperthyroidism
    -growth hormone excess
    -Cushing syndrome
    -renal phosphate wasting
29
Q

Kallman syndrome - overview

A

*delayed/absent puberty and impaired sense of small
*due to impaired GnRH synthesis
*more common in males > females
*treatment: testosterone replacement to induce secondary sex characteristics, infertility treatments

30
Q

Turner syndrome - overview

A

*partially/completely missing X chromosome (45, X)
*diagnosis is confirmed by karyotype
*fairly common: 1 in 2,000 live births

31
Q

Turner Syndrome - features

A

*SHORT STATURE
*gonadal dysgenesis
*cardiac and renal malformations
*webbed neck
*thyroid disease
*sometimes delayed/stalled puberty

32
Q

Turner Syndrome - management

A

*estrogen replacement to induce secondary sex characteristics
*growth hormone therapy for short statue (if growth plates are not already fused)
*screening / treatment for associated diseases:
-cardiac abnormalities (coarctation, bicuspid aortic valve)
-renal malformations
-hypothyroidism/autoimmune diseases
-learning issues
-hearing problems

Endo Repro Exam (31 decks)

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