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Article

A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.

Human molecular genetics - 1 Nov 2015

Vezzoli Valeria, Duminuco Paolo, Vottero Alessandra, Kleinau Gunnar, Schülein Ralf, Minari Roberta, Bassi Ivan, Bernasconi Sergio, Persani Luca, Bonomi Marco

Abstract excerpt

The human luteinizing hormone/chorionic gonadotropin receptor (LHCGR) plays a fundamental role in male and female reproduction. In males, loss-of-function mutations in LHCGR have been associated with distinct degrees of impairment in pre- and postnatal testosterone secretion resulting in a variable phenotypic spectrum, classified as Leydig cell hypoplasia (LCH) type 1 (complete LH resistance and disorder of sex...

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Source

Identifiers

PMID: 26246498
DOI: 10.1093/hmg/ddv313

Genes

LHCGR

Variants

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

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Research trail→

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A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.PMID 26246498Read ↗

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.Semantic proximity Read ↗

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

Inactivating mutations of the human luteinizing hormone receptor in both sexes.Semantic proximity Read ↗

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External GenitaliaSemantic proximity Read ↗

Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.Semantic proximity Read ↗

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

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

A novel compound heterozygous mutation of the luteinizing hormone receptor -implications for fertility.Semantic proximity Read ↗

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Case Report: A 54 base pair inactivating mutation of LHCGR in a 28-year old woman with poor ovarian responseSemantic proximity Read ↗

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A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sisterSemantic proximity Read ↗

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