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Kallmann's SyndromeAka: Fertile Eunuch Syndrome

Epidemiology: Prevalence
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

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This page was written by Scott Moses, MD. This page was last revised before 5/10/08, prior to consistent tracking of revision date. This page was last published on 11/3/2008. Please send comments and questions to the editor. Contact information may be found on the page About the Family Practice Notebook. These pages are best viewed with Microsoft Internet Explorer 6.0.