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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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Tests & Diagnosis

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How is Kallmann syndrome diagnosed?

The diagnosis of Kallmann syndrome may be suspected with evidence of lack of sexual maturation or hypogonadism, and evidence of incomplete sexual maturity by Tanner staging. Tanner staging is an established method used by endocrinologists worldwide to evaluate the maturation of the primary and secondary sexual characteristics.[1]

The diagnosis of Kallmann syndrome additionally relies on hormone evaluation, as well as evaluation of the sense of smell (olfactory function testing). Analysis of the olfactory bulbs by MRI can be useful, especially in young children. Genetic testing can also be used to diagnose the condition by identifying a disease-causing mutation in one of the genes responsible for Kallmann syndrome.[2]
Last updated: 6/22/2016

References
  1. Kallmann Syndrome. NORD. November 14, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/848/viewAbstract.
  2. 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.


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.