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"Resources" on this report.
Copyright 1991, 1992, 1999, 2006, 2007, 2009
NORD is very grateful to Hugh S. Taylor, MD, Professor and Director, Division of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, for assistance in the preparation of this report.
Synonyms of Kallmann Syndrome
- Hypogonadism with Anosmia
- Hypogonadotropic Hypogonadism and Anosmia
Disorder Subdivisions
General Discussion
Kallmann syndrome is a rare inherited disorder that mostly, but not exclusively, affects men. The major characteristics of Kallmann syndrome, in both men and women, are the failure to experience puberty and the complete or partial loss of the sense of smell. Failure to go through puberty reflects a hormonal imbalance that is caused by a failure of a part of the brain known as the hypothalamus. Patients with Kallmann syndrome show evidence of small genitalia, sterile gonads that cannot produce the sex cells (hypogonadism), and a loss of the sense of smell (anosmia). The impaired production of hormones as well as sperm and egg cells causes delayed puberty, growth and infertility.
There are three forms of Kallmann syndrome. The most common is known as KAL1. This is an X-linked form, which means that the malfunctioning gene is located on the X chromosome. The malfunctioning gene responsible for the next more common form, KAL2, has been traced to a site on chromosome 8 and the genetic inheritance is transmitted as an autosomal dominant trait. The third and most rare form of Kallmann syndrome is KAL3. This appears to be transmitted as an autosomal recessive trait. The site of the malfunctioning gene has not been determined.
Organizations related to Kallmann Syndrome
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
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