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Article

Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II.

Molecular and cellular endocrinology - 5 Feb 2013

Kossack Nina, Troppmann Britta, Richter-Unruh Annette, Kleinau Gunnar, Gromoll Jörg

Abstract excerpt

The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is essential for normal male sex differentiation. Recently, the additional primate-specific exon 6A of the LHCGR was discovered and it was shown to act as regulatory element at the transcriptional level. Compound heterozygous mutations in exon 6A (c.580 A>G) and exon 11 (c.1244T>C) were identified in the LHCGR of a male 46,XY patient with genital...

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

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Source

Identifiers

PMID: 23232123
DOI: 10.1016/j.mce.2012.11.018

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.

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Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II.PMID 23232123Read ↗

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

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

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