Puberty

Question 1

Adenarche v. Gonadarche

Answer 1

• Adenarche - maturation of adrenal cortex –> adrenal androgen synthesis (precedes gonadarche by 2-3 yrs and does not stimulate it)
• Change in responsiveness to ACTH –> DHEAS (starts at about 6 yo)
• Gonadarche - growth and maturation of gonads which leads to secretion of sex hormones
  
  • Girls - estrogen –> breast development
  • Boys - testosterone –> testicular enlargement

Question 2

Thelarche

Menarche

Spermarche

Pubarche

Answer 2

• Thelarche - appearance of breast tissue (usually first)
• Menarche - onset of menses (usually 2.6 yrs after puberty starts)
• Spermarche - first ejaculation or presence of sperm in urine
• Pubarche - presence of pubic hair

Question 3

What is the mean age of onset of female puberty? In what order does it typically progress?

Answer 3

• Mean Onset = 10.5 yo
• Order
  • 1- Inc linear growth (9 yo)
  • 2- Thelarche
  • 3- Pubarche
  • 4- Peak height velocity
  • 5- Menarche

Question 4

Tanner Stages of Breast Development

Answer 4

• I - no palpable breast tissue
• II - breast bud so elevated at papilla and enlargement of areolar diameter
• III - enlargement of breast but no separation of areolar contour from breast
• IV - areola and papilla project above breast
• V - recession of areola to match contour of breast

Question 5

Tanner Stages of Hair Development (both sexes)

Answer 5

• I - no pubic hair
• II - sparse, straight hair along lalteral vulva or base of penis
• III - dark, coarser, curlier, extends over mid-pubis
• IV - adult like appearance but does not extend to thighs
• V - adult like appearance from thigh to thigh

Question 6

Tanner Stages of Male Development

Answer 6

• I - prepubertal
• II - enlargement of scrotum and testes, scrotal skin reddens and changes texture
• III - enlargement of penis, further growth of testes; coarse
• IV - penis grows in breadth and glans forms; larger testes and scrotum; darker scrotal skin
• V - adult genitalia

Question 7

What is the mean age of onset of male puberty? In what order does it typically progress?

Answer 7

• Mean onset = 11.5 yo
• Order
  • 1- inc testicular volume (meas w/ Prader orchidometer)
  • 2- pubic hair
  • 3- height inc
  • 4- sperm in urine

Question 8

How is precocious puberty defined?

Answer 8

• Defined by - >2.5 SDs earlier than average
  
  • < 8 yo in girls
  • < 9 yo in boys

MORE COMMON IN GIRLS

Question 9

Incomplete Precocious Puberty

Answer 9

• Isolated premature breast development in girls (no other secondary sex characteristics or progression)
  
  • May be related to maternal estrogen if seen in infants
• OR premature adrenarche (isolated activation of HPA axis w/o gonadarche - body odor or pubic hair - DHEAS > 40)
  
  • May be related to obesity and DM
• Monitor - 20% will progress

Question 10

Central or True Precocious Puberty

Answer 10

• Gonadotropin-Dep
• Early HPG axis maturation
• Presentation
  - Accelerated linear growth and bone age
  - Pubertal levels of FSH/LH/ sex steroids
  - Gender appropriate sex characteristics
• Causes - 90% idiopathic; CNS lesions (hamartomas, other hypothalamus or pituitary lesions, trauma or CNS infections, mutations)
• Tx - continuous GnRH agonist to down-regulate pulses (Leuprolide injections or implant)

Question 11

Peripheral or Pseudo Precocious Puberty

Answer 11

• Gonadotropin - Indep
• NOT early HPG axis but extra sex steroids (from gonads, exogenous source, ectopic gonadotropin secreting tumor)
• Presentation
  - Poss gender-inappropriate sex characteristics
  - Suppression of FSH/LH
• Causes include … ovarian cysts that secrete estrogen, gonadal tumors, adrenal tumor or CAH, exogenous steroid use, severe primary hypothyroidism, McCune-Albright Syndrome
• Tx - aromatase inhibitors to block estrogen production from androgens; treat underlying cause

Question 12

McCune-Albright Syndrome

Answer 12

• mutation causing cont stimulation and activation of FSH receptor

TRIAD

• precocious puberty
• cafe-au-lait spots
• fibrous bone lesions (“limp”)

Question 13

How can severe hypothyroidism lead to precocious puberty?

Answer 13

• Excess TSH to comp –> TSH acts on FSH receptor

- Only case where you see DELAYED bone growth (underlying hypothyroid)

Question 14

How is delayed puberty defined?

Answer 14

• Absence or incomplete development of secondary sex characteristics by age when 95% of kids have initiated sexual maturation
• Boys - 14 yo
• Girls - 12-13 yo

Question 15

Causes of Delayed Puberty (labs for ea)

Answer 15

• Primary - gonad problem (Turners, chemo, radiation, gonadal dysgenesis, premature ovarian failure) - high LH/FSH
• Secondary - hypothalamus, pituitary, thyroid
• • Permanent or functional (systemic illness, hypothyroid, excessive exercise) - low LH/FSH

Question 16

How to treat constitutional delayed puberty?

Answer 16

• Wait and watch
• Then may start estrogen therapy (slow inc over time) then add progesterone after 2 yrs or w/ first breakthrough bleeding
• May stop therapy for 1-3 months to see if spontaneous menses starts

Question 17

When to work up a female for delayed puberty (3 instances)

Answer 17

1 - Fail to menstruate by 15 yo w/ no secondary sex characteristics

2 - Fail to menstruate > 3 yrs after breast development (even if < 15 yo)

3 - No breast development by 13 yo