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Genetic and Rare Diseases Information Center (GARD)

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Kallmann syndrome


Other Names for this Disease

  • Anosmic hypogonadism
  • Anosmic idiopathic hypogonadotropic hypogonadism
  • Dysplasia olfactogenitalis of De Morsier (formerly)
  • Hypogonadotropic hypogonadism and anosmia
  • Hypogonadotropic hypogonadism-anosmia syndrome
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Overview

Kallmann syndrome is an inherited disorder characterized by delayed puberty and an impaired sense of smell. Other symptoms can include color blindness, cleft lip or palate, hearing loss, failure of the kidneys to develop, abnormal development of secondary sex characteristics (such as breast development or pubic hair), and infertility. This disorder is a form of hypogonadotropic hypogonadism. Affected males are usually born with a small penis and underdeveloped testes. Affected females usually do not begin menstruating at puberty and have little or no breast development. In some people, puberty is incomplete or delayed.[1][2]

Four types of Kallmann syndrome have been identified, which are designated as types 1 through 4. The most common type is Kallmann syndrome 1, which is inherited in an X-linked recessive fashion. Autosomal recessive and autosomal dominant inheritance has been noted in the other types.[1] Mutations in the KAL1 gene cause Kallmann syndrome 1 and Kallmann syndrome 2 results from mutations in the FGFR1 gene. Mutations in PROKR2 cause Kallmann syndrome 3 and mutations in the PROK2 gene cause Kallmann syndrome 4. Other genes associated with this syndrome include CHD7 and FGF8.[1][2]
Last updated: 5/12/2011

References

  1. Kallmann syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/kallmann-syndrome. Accessed 12/22/2011.
  2. Pallais JC, Au M, Pitteloud N, Seminara S, Crowley WE. Kallmann syndrome. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1334/. Accessed 12/22/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Kallmann syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for¬†information on rare diseases and orphan drugs.¬† Access to this database is free of charge.
Other Names for this Disease
  • Anosmic hypogonadism
  • Anosmic idiopathic hypogonadotropic hypogonadism
  • Dysplasia olfactogenitalis of De Morsier (formerly)
  • Hypogonadotropic hypogonadism and anosmia
  • Hypogonadotropic hypogonadism-anosmia syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.