Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Kallmann syndrome 1


Other Names for this Disease
  • KAL1
  • Kallmann syndrome, type 1, X-linked
  • Kallmann syndrome, X-linked
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms


Newline Maker

What are the signs and symptoms of Kallmann syndrome 1?

The features of Kallmann syndrome 1 vary, even among affected people in the same family. The condition is characterized by delayed or absent puberty and an impaired sense of smell. It is a form of hypogonadotropic hypogonadism, which is a condition affecting the production of hormones that direct sexual development. Males with hypogonadotropic hypogonadism are often born with an unusually small penis and undescended testes. At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males. 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]

In Kallmann syndrome 1, the sense of smell is either diminished or completely absent. This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing.[1]

Additional signs and symptoms can include a failure of one kidney to develop, a cleft lip or palate, abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a condition called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand.[1]

Last updated: 12/22/2011

References
  1. Kallmann syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/kallmann-syndrome. Accessed 12/22/2011.