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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]
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]
References
- Kallmann syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/kallmann-syndrome. Accessed December 22, 2011.
- Pallais JC, Au M, Pitteloud N, Seminara S, Crowley WE. Kallmann syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1334/. Accessed December 22, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Kallmann syndrome. Click on the link to go to GHR and review the information.
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- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.