Kallmann syndrome

Common Name(s)

Kallmann syndrome

Kallmann syndrome is an inherited disorder characterized by delayed puberty and an impaired sense of smell. Other symptoms can include color blindness, cleft lip or palate, hearing loss, failure of the kidneys to develop, abnormal development of secondary sex characteristics (such as breast development or pubic hair), and infertility. This disorder is a form of hypogonadotropic hypogonadism. Affected males are usually born with a small penis and underdeveloped testes. Affected females usually do not begin menstruating at puberty and have little or no breast development. In some people, puberty is incomplete or delayed.

Four types of Kallmann syndrome have been identified, which are designated as types 1 through 4. The most common type is Kallmann syndrome 1, which is inherited in an X-linked recessive fashion. Autosomal recessive and autosomal dominant inheritance has been noted in the other types.  Mutations in the KAL1 gene cause Kallmann syndrome 1 and Kallmann syndrome 2 results from mutations in the FGFR1 gene. Mutations in PROKR2 cause Kallmann syndrome 3 and mutations in the PROK2 gene cause Kallmann syndrome 4. Other genes associated with this syndrome include CHD7 and FGF8.
 

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Condition Specific Organizations

Following organizations serve the condition "Kallmann syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Kallmann syndrome" returned 53 free, full-text research articles on human participants. First 3 results:

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
 

Author(s): Julie Sarfati, Corinne Fouveaut, Chrystel Leroy, Marc Jeanpierre, Jean-Pierre Hardelin, Catherine Dodé

Journal:

 

Kallmann syndrome (KS) is a genetically heterogeneous developmental disorder that associates hypogonadotropic hypogonadism and anosmia. Various causative genes have been identified, but their respective involvement in different world regions is poorly documented.

Last Updated: 22 Oct 2013

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Clinical genetic testing for Kallmann syndrome.
 

Author(s): Lawrence C Layman

Journal: J. Clin. Endocrinol. Metab.. 2013 May;98(5):1860-2.

 

Last Updated: 7 May 2013

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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
 

Author(s): Veronique Pingault, Virginie Bodereau, Viviane Baral, Severine Marcos, Yuli Watanabe, Asma Chaoui, Corinne Fouveaut, Chrystel Leroy, Odile Vérier-Mine, Christine Francannet, Delphine Dupin-Deguine, Françoise Archambeaud, François-Joseph Kurtz, Jacques Young, Jérôme Bertherat, Sandrine Marlin, Michel Goossens, Jean-Pierre Hardelin, Catherine Dodé, Nadege Bondurand

Journal: Am. J. Hum. Genet.. 2013 May;92(5):707-24.

 

Transcription factor SOX10 plays a role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation and is a major actor in the development of the neural crest. It has been implicated in Waardenburg syndrome (WS), a rare disorder characterized ...

Last Updated: 6 May 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Kallmann syndrome" returned 7 free, full-text review articles on human participants. First 3 results:

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
 

Author(s): Hyung-Goo Kim, Lawrence C Layman

Journal: Mol. Cell. Endocrinol.. 2011 Oct;346(1-2):74-83.

 

Mutations in the chromodomain helicase DNA binding protein-7 (CHD7) cause CHARGE syndrome, which includes eye coloboma, heart malformations, atresia of the choanae, retardation of growth/development, genital anomalies, and ear abnormalities. CHARGE syndrome is usually sporadic, but ...

Last Updated: 3 Oct 2011

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[Kallmann syndrome: a historical [corrected] clinical and molecular review].
 

Author(s): Rogério Silicani Ribeiro, Julio Abucham

Journal: Arq Bras Endocrinol Metabol. 2008 Feb;52(1):8-17.

 

Kallmann syndrome (KS), the association of hypogonadotropic hypogonadism and anosmia, was described by Maestre de San Juan in 1856 and characterized as a hereditary condition by Franz Josef Kallmann in 1944. Many aspects such as pathogeny, phenotype and genotype in KS were described ...

Last Updated: 17 Mar 2008

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Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.
 

Author(s): Rogerio Silicani Ribeiro, Teresa Cristina Vieira, Julio Abucham

Journal: Eur. J. Endocrinol.. 2007 Mar;156(3):285-90.

 

Kallmann syndrome (KS) describes the association of isolated hypogonadotropic hypogonadism with hypo/anosmia. A few KS patients may reverse hypogonadism after testosterone withdrawal, a variant known as reversible KS. Herein, we describe the first mutation in KAL1 in a patient with ...

Last Updated: 26 Feb 2007

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)
 

Status: Recruiting

Condition Summary: Kallmann Syndrome; Hypogonadotropic Hypogonadism; Hypothalamic Amenorrhea; Polycystic Ovarian Syndrome; Precocious Puberty

 

Last Updated: 9 Apr 2014

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Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
 

Status: Recruiting

Condition Summary: Hypogonadism; Kallmann Syndrome; Puberty, Delayed; Puberty, Precocious; Hypothalamic Amenorrhea; Anosmia; GnRH Deficiency

 

Last Updated: 29 May 2014

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Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)
 

Status: Recruiting

Condition Summary: Kallmann Syndrome; Hypogonadotropic Hypogonadism; GnRH Deficiency

 

Last Updated: 29 May 2014

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