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Article

Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia.

The Journal of clinical endocrinology and metabolism - 1 Oct 1999

Zenteno J C, Canto P, Kofman-Alfaro S, Mendez J P

Abstract excerpt

Leydig cell aplasia or hypoplasia is a rare form of male pseudohermaphroditism resulting from inadequate fetal testicular Leydig cell differentiation. Affected individuals presented a wide phenotypic spectrum, ranging from complete female external genitalia to males with micropenis. Recessive mutations in the LH receptor gene have been identified as responsible for the condition. The majority of these mutations...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10523033
DOI: 10.1210/jcem.84.10.6081

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia.PMID 10523033Read ↗

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.Semantic proximity Read ↗

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasiaSemantic proximity Read ↗

Naturally occurring mutations of the luteinizing hormone receptor gene affecting reproduction.Semantic proximity Read ↗

Inactivating mutations of LH and FSH receptors--from genotype to phenotype.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 ↗

Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.Semantic proximity Read ↗

Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia.Semantic proximity Read ↗

Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations.Semantic proximity Read ↗

Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility.Semantic proximity Read ↗

[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].Semantic proximity Read ↗

The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.Semantic proximity Read ↗

Molecular abnormalities of FSH and LH action.Semantic proximity Read ↗

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