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Article

Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature.

BMJ case reports - 10 Dec 2012

Shekhar Shashank

Abstract excerpt

Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is familial in one-third of cases and multiple modes of inheritance have been described. Phenotypic spectrum of GNRHR mutations has been found to be widest without any pathognomonic phenotypic feature. However, in subjects of nIHH with TAC3/TAC3R mutations preservation of follicle stimulating hormone secretion is a characteristic feature and has been...

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Identifiers

PMID: 23230250
DOI: 10.1136/bcr-2012-007537
PMCID: PMC4544028

Genes

GNRHR
TAC3

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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