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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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.Kallmann syndrome (KS) is a condition characterized primarily by
Last updated: 2/25/2015
- 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.
- Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. 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.
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- 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.