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Article

Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012

Beneduzzi Daiane, Trarbach Ericka B, Latronico Ana Claudia, Mendonca Berenice Bilharinho de, Silveira Letícia F G

Abstract excerpt

We report a novel GNRHR mutation in a male with normosmic isolated hypogonadotropic hypogonadism (nIHH). The coding region of the GNRHR gene was amplified and sequenced. Three variants p.[Asn10Lys;Gln11Lys]; [Tyr283His] were identified in the GNRHR coding region in a male with sporadic complete nIHH. The three variants were absent in the controls (130 normal adults). Familial segregation showed that the...

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Source

Identifiers

PMID: 23295295
DOI: 10.1590/s0004-27302012000800013

Genes

GNRHR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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