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Article

Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.

Molecular endocrinology (Baltimore, Md.) - 1 Aug 1996

Laue L L, Wu S M, Kudo M, Bourdony C J, Cutler G B, Hsueh A J, Chan W Y

Abstract excerpt

The human LH receptor (hLHR) is a member of the G protein-coupled receptors characterized by the presence of seven-transmembrane (TM) helices. Inactivating mutations of the hLHR lead to Leydig cell hypoplasia (LCH), a form of male pseudohermaphroditism resulting from the failure of fetal testicular Leydig cell differentiation. We have identified three mutations of the hLHR in a patient with LCH: deletion of exon...

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Identifiers

PMID: 8843415
DOI: 10.1210/mend.10.8.8843415

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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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