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Article

Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism.

Endocrine research - 1 Jan 2015

Méndez Juan Pablo, Zenteno Juan Carlos, Coronel Agustín, Soriano-Ursúa Marvin Antonio, Valencia-Villalvazo Elith Yazmín, Soderlund Daniela, Coral-Vázquez Ramón Mauricio, Canto Patricia

Abstract excerpt

UNLABELLED: Purpose/aim of the study: To date, different genes have been identified as responsible for the presence of normosmic congenital hypogonadotropic hypogonadism (nCHH). Herein, we report the molecular findings regarding the analysis of PROK2, in two brothers with nCHH. SUBJECTS AND METHODS: Two siblings with nCHH, in whom mutations in GNRHR, PROKR2 and FGFR1 had been investigated previously, as well as...

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Source

Identifiers

PMID: 25531638
DOI: 10.3109/07435800.2014.982327

Genes

PROK2
GNRHR
FGFR1
PROKR2

Provenance

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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