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Updated: Aug 26 2021

Kallmann Syndrome

  • 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.
  • Introduction
    • 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
  • Presentation
    • 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
      • primaryamenorrhea
      • poorly defined secondary sexual characteristics
      • infertility
  • Treatment
    • 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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