Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

PLoS medicine - 22 Apr 2008

Kossack Nina, Simoni Manuela, Richter-Unruh Annette, Themmen Axel P N, Gromoll Jörg

Abstract excerpt

BACKGROUND: Male pseudohermaphroditism, or Leydig cell hypoplasia (LCH), is an autosomal recessive disorder in individuals with a 46,XY karyotype, characterized by a predominantly female phenotype, a blind-ending vagina, absence of breast development, primary amenorrhea, and the presence of testicular structures. It is caused by mutations in the luteinizing hormone/chorionic gonadotropin receptor gene (LHCGR),...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disorders of Sex Development
Share to Exons

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

Share to LHCGR gene

Share to Leydig Cells

Share to Luteinizing Hormone

Share to Mutation

Share to Receptors, LH

Share to Testis

Source

Open in PubMed Open full text

Identifiers

PMID: 18433292
DOI: 10.1371/journal.pmed.0050088
PMCID: PMC2323302

Genes

LHCGR

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

Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.PMID 18433292Read ↗

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

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

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

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

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

Genetic Models for the Study of Luteinizing Hormone Receptor FunctionSemantic proximity Read ↗

A rare cause of primary amenorrhea: LHCGR gene mutations.Semantic proximity Read ↗

Natural antisense LHCGR could make sense of hypogonadism, male-limited precocious puberty and pre-eclampsia.Semantic proximity Read ↗

A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.