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Article

A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.

The Journal of clinical endocrinology and metabolism - 1 Jun 1998

Stavrou S S, Zhu Y S, Cai L Q, Katz M D, Herrera C, Defillo-Ricart M, Imperato-McGinley J

Abstract excerpt

We report a novel homozygous mutation of the LH receptor (LHR) gene in three siblings: two 46XY and one 46XX. The 46XY siblings presented with female external genitalia, primary amenorrhea, and lack of breast development. Hormonal evaluation revealed a markedly elevated LH level with a low testosterone level, which failed to increase after human CG stimulation. Enzymatic deficiencies of testosterone biosynthesis...

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Source

Identifiers

PMID: 9626144
DOI: 10.1210/jcem.83.6.4855

Genes

GAA

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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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A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.PMID 9626144Read ↗

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LH receptor defects.Semantic proximity Read ↗

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Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.Semantic proximity Read ↗

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.Semantic proximity Read ↗

An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.Semantic proximity Read ↗

A rare cause of primary amenorrhea: LHCGR gene mutations.Semantic proximity Read ↗

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