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 58 free, full-text research articles on human participants. First 3 results:

Mutations in FEZF1 cause Kallmann syndrome.
 

Author(s): L Damla Kotan, B Ian Hutchins, Yusuf Ozkan, Fatma Demirel, Hudson Stoner, Paul J Cheng, Ihsan Esen, Fatih Gurbuz, Y Kenan Bicakci, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu

Journal: Am. J. Hum. Genet.. 2014 Sep;95(3):326-31.

 

Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which ...

Last Updated: 6 Sep 2014

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Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in trafficking.
 

Author(s): Dan-Na Chen, Yan-Tao Ma, Huadie Liu, Qun-Yong Zhou, Jia-Da Li

Journal: J. Biol. Chem.. 2014 May;289(22):15518-26.

 

Mutations in the G protein-coupled prokineticin receptor 2 (PKR2) are known to cause Kallmann syndrome and idiopathic hypogonadotropic hypogonadism manifesting with delayed puberty and infertility. Some of the mutant receptors are not routed to the cell surface; instead, they are ...

Last Updated: 29 Jul 2014

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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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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 9 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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The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
 

Author(s): J-P Hardelin, C Dodé

Journal: Sex Dev. 2008 ;2(4-5):181-93.

 

Kallmann syndrome (KS) combines hypogonadotropic hypogonadism and anosmia. Anosmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to gonadotropin-releasing hormone (GnRH) deficiency, which presumably results from a failure of the embryonic ...

Last Updated: 6 Nov 2008

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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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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: 23 Jun 2015

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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: 20 Mar 2015

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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: 5 Mar 2015

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