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

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

Journal of pediatric endocrinology & metabolism : JPEM - 26 Jan 2018

Xu Yufei, Chen Yulin, Li Niu, Hu Xuyun, Li Guoqiang, Ding Yu, Li Juan, Shen Yiping, Wang Xiumin, Wang Jian

Abstract excerpt

BACKGROUND: Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH...

Read the complete abstract on PubMed

Topics

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

Share to Disorder of Sex Development, 46,XY
Share to Exons

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

Share to Frameshift Mutation

Share to Gender Identity

Share to Heterozygote

Share to Introns

Share to Receptors, LH

Share to Testis

Source

Identifiers

PMID: 29305568
DOI: 10.1515/jpem-2016-0445

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

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.PMID 29305568Read ↗

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

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

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

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

[46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature].Semantic proximity Read ↗

A novel variant inLCHGRgene in 3 siblings with type 1 Leydig cell hypoplasiaSemantic proximity Read ↗

Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.Semantic proximity Read ↗

Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.Semantic proximity Read ↗

Novel and recurrent genetic variants associated with male and female infertilitySemantic proximity Read ↗

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

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

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