Sex

Kallmann's Syndrome

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Kallmann's Syndrome, Fertile Eunuch Syndrome

  1. Males: 1 in 7500
  2. Females: 1 in 50,000
  • Pathophysiology
  1. Secondary to LHRH deficiency (GnRH deficiency)
  2. Results in isolated Hypogonadotropic Hypogonadism
    1. Kallmann's Syndrome is most common cause
  3. Partial LHRH deficiency results in fertile eunuch
  • Signs
  1. Anosmia or Hyposmia
  2. Delayed Puberty
  3. Small Testes (size correlates with LHRH deficiency)
  4. Micropenis (50% of cases)
  5. Other findings seen in Hypogonadotropic Hypogonadism
    1. Gynecomastia
    2. Undescended Testes (Cryptorchidism)
  • Associated Conditions (loosely correlated)
  1. Cleft Lip and Palate
  2. Seizure Disorder
  3. Short Metacarpals
  4. Pes cavus
  5. Sensorineural Hearing Loss
  6. Cerebellar Ataxia
  • References
  1. Wilson (1998) Williams Endocrinology, p. 1555-6