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Endocrinology > Growth & Puberty > Flashcards

Growth & Puberty Flashcards

1
Q

GH - IGF - Growth Axis

A
  1. Hypothalamus: Releases GHRH
  2. Stimulates pituitary gland to make GH
  3. GH binds to GHBP at liver and activates JAK/STAT/MAPK cascade
  4. Liver makes IGF-1
  5. IGF-1 acts at IGF-1 receptor on the bone, stimulating growth
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2
Q

Growth velocity variance with age

A
  • Rapid growth in infancy ~25 cm
  • 1-2 years-10 cm/yr
  • 3-4 yrs: 6-7cm/yr
    • 5 yrs-puberty 5 cm/yr
  • Physiological slowing can occur between 9-18 months
  • Prepubertal dip in growth
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3
Q

Prepubertal Growth Spurts

- girls vs. boys

A
  • occurs at T2 -3 for girl
  • occurs at T4 for boys
  • Accounts for 20% of adult height (Gain of ~25 cm in puberty)
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4
Q

Definition of Short Stature

A
  • Height more than 2 SD below the mean for age, sex and population group (< 3rd % or <-2sd)
  • Translates to an adult height of 5’ 4” in males and 4’ 11” in females
  • Average height in US for adult males is 5’ 9” and for adult females 5’ 4”
  • Endocrine diseases are a rare cause for short stature (only ~5%)
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5
Q

Non Pathological causes of Short Stature

A
  • Familial short stature

- Constitutional delay in growth and puberty

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6
Q

Below average weight gain & growth is most likely due to what pathology?

A
  • Congenital growth abnormality
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7
Q

Below average growth, but normal weight gain, is most likely due to what pathology?

A
  • Endocrine pathology
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8
Q

Noonan’s Syndrome

A
  • congenital defect with autosomal inheritance
  • presentation similar to Turner Syndrome

Clinical features:

  • Prenatal echo-nuchal cystic hygroma
  • dysmorphic facial features
  • pectus deformities and cubitus valgus
  • web neck
  • major cardiac defects:1-PS, 2-cardiomyopathy
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9
Q

Prader-Willi Syndrome

A
  • Paternal allele is not expressed

Clinical:

  • short stature
  • raids pantry at night time
  • mild developmental delay
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10
Q

Turner Syndrome

A
  • XO

Clinical features:

  • short stature
  • increased carrying angle
  • streak ovary with infertility
  • shield chest
  • webbed neck
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11
Q

Screening lab for short stature

A
  • IGF-1 and IGFBP3 (screen for GH deficiency, random GH levels are useless).
  • GH stimulation test is confirmatory.
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12
Q

Indications for GH treatment for short stature

A
  • Growth hormone deficiency
  • Congenital: Turner syndrome, Noonan syndrome, Prader Willi syndrome, SHOX deficiency
  • IUGR with poor catch up growth by age 2
  • Idiopathic short stature (ISS), Ht<-2.25 sd with poor predicted adult height
  • Chronic Renal Failure
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13
Q

Puberty in Boys

  • Earliest sign?
  • Tanner stage of peak growth spurt?
  • Parameters for tanner staging?
A
  • Earliest sign (tanner 2) is testicular enlargement (>2.5 cm or > 3 ml volume)
  • Onset: 9-13.5 yrs
  • Spermatogenesis 11-15 yrs
  • Peak growth spurt-Tanner 4
  • Ht gain 28 cm

Tanner stage parameters:

  • pubic hair
  • testes volume
  • penis
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14
Q

Puberty in Girls:

  • Earliest sign?
  • Tanner stage of peak growth spurt?
  • Parameters for tanner staging?
A
  • Earliest sign is breast development, Tanner 2
  • Onset: 8-13.5 yrs
  • Time to menarche : 2 yrs
  • Peak growth spurt in Tanner 2-3
  • Ht gain 25 cm

Tanner stage: examine public hair –> spreads to thighs
- unique aspect of tanner 4: development of secondary mound on top of areola

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15
Q

Benign Premature Thelarche

A
  • Isolated breast development without any other sexual characteristics
  • Before age 2 or around age 6
  • No accelerated growth
  • Prepubertal hormonal profile
  • Management: Reassurance and follow up
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16
Q

Benign Premature Adrenarche

A
  • Isolated Pubic hair+/-axillary hair before 8 yrs in girls and 9 yrs in boys
  • Common in African American girls
  • No growth spurt
  • Bone age is normal or slightly advanced, normal predicted adult height
  • Mildly elevated DHEAS from adrenal cortex maturation
  • Management: Reassurance and follow up
17
Q

Precocious Puberty in Girls

A
  • Defined as puberty before age 8
  • Central (Gonadotropin dependent), majority
  • Peripheral (Gonadotropin independent); estrogen from ovaries ( cysts or tumors) or exogenous exposure
  • 95% idiopathic

Evaluation:

  • Bone age ( generally advanced)
  • Baseline LH>0.6 is diagnostic of central PP
  • Peripheral PP: FSH and LH very low with high estradiol
  • MRI of the brain and pituitary gland ( CPP)
  • Pelvic sonogram (PPP)

Psychosocial concern: Premature menarche and adult short stature (b/c finish growing early)

Treatment: Long acting GnRH analogs

18
Q

McCune Albright syndrome

A

Triad of:

  1. Precocious Puberty
  2. Café-au-lait spots
  3. Fibrous dysplasia
19
Q

Precocious Puberty in Boys

A
  • Defined as puberty before age 9
  • More likely to have CNS cause than being idiopathic

Evaluation:

  • FSH, LH, Testosterone
  • Bone age ( generally advanced)
  • MRI of the brain and pituitary gland ( CPP)
  • Treatment similar to girls with CPP with GnRH agonists
20
Q

Delayed puberty in boys

A
  • No testicular development by age 14
  • Constitutional delay in growth and puberty is the most common cause ( late bloomer)

Pathological causes:

  • Hypergonadotropic Hypogonadism ( FSH and LH are high, testicular failure)
  • Klinefelters syndrome (47,XXY)
  • Hypogonadotropic Hypogonadism (low FSH and LH), e.g., Isolated Gonadotropin deficiency, Kallmann’s syndrome (anosmia), CNS Tumors, Hypopituitarism

Treatment: Testosterone

21
Q

Delayed Puberty in girls

A
  • No breast by 13 yrs or no menarche by 16
  • Prolonged puberty over 3 yrs
  • Pathological causes more common

Hypergonadotropic: Karyotype- if FSH and LH are high

  1. Turner syndrome
  2. Autoimmune ovarian failure
  3. Complete androgen insensitivity syndrome

Hypogonadotropic

  1. Constituitional delay (rare)
  2. Chronic illness, anorexia nervosa, very athletic, hypothyroidism
  3. GnRH deficiency
  4. Hypopituitarism
  5. Prolactinomas

Treatment: Estrogen first, then progesterone

Endocrinology (11 decks)

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