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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
  • Congenital hypogonadotropic hypogonadism with anosmia
  • Dysplasia olfactogenitalis of De Morsier (formerly)
  • Hypogonadotropic hypogonadism and anosmia
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Overview

Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth (congenital) and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development, but may be suspected in male infants with cryptorchidism or an unusually small penis. Untreated adult males may have decreased bone density and muscle mass, decreased testicular volume, erectile dysfunction, diminished libido, and infertility. Untreated adult females almost always have absent menstruation with normal, little, or no breast development. In rare cases, features may include failure of kidney development (renal agenesis), hearing impairment, cleft lip or palate, and/or dental abnormalities. Most cases of KS are sporadic but some types are familial. The inheritance pattern differs depending on the responsible gene. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases.[1]
Last updated: 2/25/2015

References

  1. Jean-Pierre Hardelin and Jacques Young. Kallmann syndrome. Orphanet. June, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478.
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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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Kallmann syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Anosmic hypogonadism
  • Anosmic idiopathic hypogonadotropic hypogonadism
  • Congenital hypogonadotropic hypogonadism with anosmia
  • Dysplasia olfactogenitalis of De Morsier (formerly)
  • Hypogonadotropic hypogonadism and anosmia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.