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Article

Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.

The Journal of clinical endocrinology and metabolism - 1 May 2002

Maya-Núñez Guadalupe, Janovick Jo Ann, Ulloa-Aguirre Alfredo, Söderlund Daniela, Conn P Michael, Méndez Juan Pablo

Abstract excerpt

GnRH regulates the synthesis and release of pituitary gonadotropins. Mutations in the human GnRH receptor (hGnRHR) gene have been reported in families with hypogonadotropic hypogonadism. Our group recently described a novel homozygous E(90)K mutation of the hGnRHR in two siblings with the complete form of hypogonadotropic hypogonadism. In the present study, mutational analysis of the E(90)K substitution was...

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Identifiers

PMID: 11994356
DOI: 10.1210/jcem.87.5.8386

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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