Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.

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Serval ID
serval:BIB_AADFB18FA55E
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.
Journal
Trends In Endocrinology and Metabolism
Author(s)
Mitchell A.L., Dwyer A., Pitteloud N., Quinton R.
ISSN
1879-3061 (Electronic)
ISSN-L
1043-2760
Publication state
Published
Issued date
2011
Volume
22
Number
7
Pages
249-258
Language
english
Abstract
Idiopathic hypogonadotropic hypogonadism (IHH) is defined by absent or incomplete puberty and characterised biochemically by low levels of sex steroids, with low or inappropriately normal gonadotropin hormones. IHH is frequently accompanied by non-reproductive abnormalities, most commonly anosmia, which is present in 50-60% of cases and defines Kallmann syndrome. The understanding of IHH has undergone rapid evolution, both in respect of genetics and breadth of phenotype. Once considered in monogenic Mendelian terms, it is now more coherently understood as a complex genetic condition. Oligogenic and complex genetic-environmental interactions have now been identified, with physiological and environmental factors interacting in genetically susceptible individuals to alter the clinical course and phenotype. These potentially link IHH to ancient evolutionary pressures on the ancestral human genome.
Pubmed
Web of science
Create date
09/09/2011 9:27
Last modification date
20/08/2019 15:14
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