Molecular characterization and phenotypic expression of mutations in genes for gonadotropins and their receptors in humans.

Details

Serval ID
serval:BIB_14850B357D4D
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Molecular characterization and phenotypic expression of mutations in genes for gonadotropins and their receptors in humans.
Journal
Frontiers of hormone research
Author(s)
Salvi R., Pralong F.P.
ISSN
1662-3762 (Electronic)
ISSN-L
0301-3073
Publication state
Published
Issued date
2010
Peer-reviewed
Oui
Volume
39
Pages
1-12
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Abstract
Gonadotropin hormones undergo important dynamic changes during life. Their rise during puberty stimulates gonadal steroid secretion, triggering the development of secondary sexual characteristics and the acquisition of fertility. The full spectrum of possible mutations and polymorphisms in the human gonadotropins and in their receptor genes has been described in recent years. Patients harboring these mutations display a very wide range of phenotypes affecting all aspects of the reproductive axis. An important insight provided by the careful study of these patients lies in the striking gender differences in the phenotypes associated with a given mutation. As a result, the careful study of these rare patients has allowed us to better define the respective roles of luteinizing hormone and follicle-stimulating hormone in normal human pubertal development and in the achievement of full fertility potential in either males or females. In this work, we describe briefly the known mutations in the genes for both gonadotropins and their receptors, and discuss their genotype/phenotype correlations in light of these important gender differences.

Keywords
Female, Follicle Stimulating Hormone, beta Subunit/genetics, Gonadotropins/genetics, Humans, Luteinizing Hormone, beta Subunit/genetics, Male, Mutation, Phenotype, Puberty/physiology, Receptors, FSH/genetics, Receptors, Gonadotropin/genetics, Receptors, LH/genetics
Pubmed
Web of science
Create date
08/06/2010 15:05
Last modification date
20/08/2019 12:43
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