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Article

Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.

PloS one - 1 Jan 2012

Tello Javier A, Newton Claire L, Bouligand Jerome, Guiochon-Mantel Anne, Millar Robert P, Young Jacques

Abstract excerpt

Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to progress normally through puberty. Mutations in the gene encoding the GnRH receptor (GNRHR1) result in CHH when present as compound heterozygous or homozygous inactivating mutations. This study identifies and characterizes the properties of two novel GNRHR1 mutations in a family in which three brothers display...

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Identifiers

PMID: 22679506
DOI: 10.1371/journal.pone.0038456
PMCID: PMC3367945

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