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

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.
 

Author(s): Julie Sarfati, Claire Bouvattier, Hélène Bry-Gauillard, Alejandra Cartes, Jérôme Bouligand, Jacques Young

Journal:

 

Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation ...

Last Updated: 17 Jun 2015

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Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.
 

Author(s): Anna Cariboni, Valentina André, Sophie Chauvet, Daniele Cassatella, Kathryn Davidson, Alessia Caramello, Alessandro Fantin, Pierre Bouloux, Fanny Mann, Christiana Ruhrberg

Journal: J. Clin. Invest.. 2015 Jun;125(6):2413-28.

 

Individuals with an inherited deficiency in gonadotropin-releasing hormone (GnRH) have impaired sexual reproduction. Previous genetic linkage studies and sequencing of plausible gene candidates have identified mutations associated with inherited GnRH deficiency, but the small number ...

Last Updated: 2 Jun 2015

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Olfactory dysfunction in children with Kallmann syndrome: relation of smell tests with brain magnetic resonance imaging.
 

Author(s): Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Handan Güleryüz, Çağdaş Güdücü, Adile Öniz, Şule Can, Bumin Dündar, Ece Böber

Journal: Hormones (Athens). ;14(2):293-9.

 

Kallmann syndrome (KS) is a genetic disorder with the distinctive features of hyposmia or anosmia and hypogonadotropic hypogonadism. Though hyposmia/anosmia can be evaluated by both objective and subjective smell tests, there is no study comparing these two methods in KS. The aim ...

Last Updated: 10 Jul 2015

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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: 15 Mar 2016

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