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Diseases

Genetic and Rare Diseases Information Center (GARD)

Kallmann syndrome


Other Names for this Disease
  • Kallmann's syndrome
  • Anosmic hypogonadism
  • Anosmic idiopathic hypogonadotropic hypogonadism
  • Hypogonadotropic hypogonadism and anosmia
  • Hypogonadotropic hypogonadism-anosmia syndrome
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Overview

Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. It may first be suspected in infancy in males with undescended testicles or an unusually small penis. Symptoms in untreated, adult males may include decreased bone density and muscle mass; small testicles; erectile dysfunction; low sex drive; and infertility. Untreated adult females with KS usually do not have menstrual periods (amenorrhea) and normal, little, or no breast development. Rarely, a person with KS will have failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities. Most cases of KS are sporadic (not inherited) but some cases are inherited. The mode of inheritance depends on the gene involved. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases.[1][2]

When the features of Kallmann syndrome are not accompanied by impaired sense of smell, the condition is referred to as idiopathic or isolated hypogonadotropic hypogonadism, or normosmic isolated GnRH deficiency (IGD).
Last updated: 6/22/2016

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.
  2. Kallmann syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/kallmann-syndrome. 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. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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
  • Kallmann's syndrome
  • Anosmic hypogonadism
  • Anosmic idiopathic hypogonadotropic hypogonadism
  • 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.