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Article

A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

Molecular endocrinology (Baltimore, Md.) - 1 Jun 1998

Martens J W, Verhoef-Post M, Abelin N, Ezabella M, Toledo S P, Brunner H G, Themmen A P

Abstract excerpt

Leydig cell hypoplasia (LCH) is characterized by a decreased response of the Leydig cells to LH. As a result, patients with this syndrome display aberrant male development ranging from complete pseudohermaphroditism to males with micropenis but with otherwise normal sex characteristics. We have evaluated three brothers with a mild form of LCH. Analysis of their LH receptor (LHR) gene revealed a homozygous...

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PMID: 9626653
DOI: 10.1210/mend.12.6.0124

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

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A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.PMID 9626653Read ↗

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Luteinizing hormone resistance syndromes.Semantic proximity Read ↗

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A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.Semantic proximity Read ↗

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