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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.
 

Author(s): Jie Wen, Li Pan, Xuan Xu, Jiang Wang, Chen Hu

Journal: Medicine (Baltimore). 2018 Jul;97(27):e11284.

 

This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a pediatric patient with KS in one pedigree.

Last Updated: 31 Dec 1969

Go To URL
Kallmann syndrome with a Tyr113His PROKR2 mutation.
 

Author(s): Jeong-Ha Ha, Sara Lee, Youngmoon Kim, Ji In Moon, Jongkwon Seo, Ja-Hyun Jang, Eun-Hae Cho, Jung Min Kim, Byoung Doo Rhee, Kyung Soo Ko, Soo Jin Yoo, Jong Chul Won

Journal: Medicine (Baltimore). 2017 Sep;96(35):e7974.

 

Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance.

Last Updated: 31 Dec 1969

Go To URL
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1.
 

Author(s): Fernando de Castro, Ruth Seal, Roberto Maggi,

Journal: Brief Funct Genomics. 2017 Jul;16(4):205-210.

 

It is accepted that confusion regarding the description of genetic variants occurs when researchers do not use standard nomenclature. The Human Genome Organization Gene Nomenclature Committee contacted a panel of consultants, all working on the KAL1 gene, to propose an update of the ...

Last Updated: 31 Dec 1969

Go To URL

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 10 free, full-text review articles on human participants. First 3 results:

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.
 

Author(s): Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jérôme Bouligand, Jacques Young

Journal: Eur. J. Endocrinol.. 2018 Mar;178(3):R55-R80.

 

Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS ...

Last Updated: 31 Dec 1969

Go To URL
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: 31 Dec 1969

Go To URL
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: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Kallmann Syndrome; Hypogonadotropic Hypogonadism; GnRH Deficiency

 

Last Updated: 31 Aug 2017

Go to URL
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: 6 Jul 2016

Go to URL
Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism
 

Status: Recruiting

Condition Summary: Kallmann Syndrome; Hypogonadotropic Hypogonadism

 

Last Updated: 25 Aug 2016

Go to URL