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Article

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

PloS one - 1 Jan 2011

Francou Bruno, Bouligand Jérôme, Voican Adela, Amazit Larbi, Trabado Séverine, Fagart Jérôme, Meduri Geri, Brailly-Tabard Sylvie, Chanson Philippe, Lecomte Pierre, Guiochon-Mantel Anne, Young Jacques

Abstract excerpt

CONTEXT: TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110). In the absence of animal models, studies of human neuroendocrine phenotypes associated with neurokinin B and NK3R receptor dysfunction can help to decipher the pathophysiology of this signaling pathway. OBJECTIVE: To evaluate the prevalence of TAC3/TACR3 mutations, characterize novel TACR3...

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Source

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Identifiers

PMID: 22031817
DOI: 10.1371/journal.pone.0025614
PMCID: PMC3198730

Genes

TACR3
TAC3
FGFR1
GNRHR
PROK2
PROKR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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