Snap Shot
  • A 15 year-old male does not demonstrate any signs of puberty. He is short for his age, his testicles show no evidence of enlargement, his testosterone levels are low, and he has a reduced ability to smell.
  • Type of congenital hypogonadotropic hypogonadism with associated dysfunction of olfactory bulbs 
  • Associated with numerous genes (e.g., KAL1, KAL2, etc.)
  • Failed migration of GnRH producing neurons from developping brain including passage to the cribiform plate
  • Lack of GnRH results in 
    • ↓ LH, FSH, testosterone, sperm count
  • Cases can represent a range of symptoms and severity
  • Non-reproductive features
    • hypogonadotropic hypogonadism
    • anosmia/hyponosmia
    • cleft palate/craniofacial defect
    • urogenital tract abnormalities
    • syndactyly
  • Reproductive features
    • failure to start or fully complete puberty
    • lack of testicle development
    • primary amenorrhea
    • poorly defined secondary sexual characteristics
    • infertility
  • Hormone replacement
    • exogenous estrogen in females
    • exogenous testosterone in men
  • Goals of therapy
    • develop secondary sex characteristics
    • build and sustain normal bone and muscle mass
    • fertility

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