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

LH receptor defects.

Seminars in reproductive medicine - 1 Aug 2002

Themmen Axel P N, Verhoef-Post Miriam

Abstract excerpt

In this article the role of LH receptor gene mutations in patients with aberrant sex differentiation is discussed. In a dominant autosomal familial form of precocious puberty in boys (familial male-limited precocious puberty) LH receptor gene mutations have been identified. These single amino acid changes, mostly found in the sixth transmembrane helix and the third intracellular loop of the transmembrane domain...

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 Mutation
Share to Puberty, Precocious

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

Share to Receptors, LH

Source

Identifiers

PMID: 12428200
DOI: 10.1055/s-2002-35384

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

LH receptor defects.PMID 12428200Read ↗

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

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

Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.Semantic proximity Read ↗

Luteinizing hormone receptor mutations in disorders of sexual development and cancer.Semantic proximity Read ↗

Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.Semantic proximity Read ↗

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

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

Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty.Semantic proximity Read ↗

A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.Semantic proximity Read ↗

Luteinizing hormone resistance syndromes.Semantic proximity Read ↗

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