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

Luteinizing hormone beta mutation and hypogonadism in men and women.

The New England journal of medicine - 30 Aug 2007

Lofrano-Porto Adriana, Barra Gustavo Barcelos, Giacomini Leonardo Abdala, Nascimento Paula Pires, Latronico Ana Claudia, Casulari Luiz Augusto, da Rocha Neves Francisco de Assis

Abstract excerpt

Selective luteinizing hormone deficiency due to mutations in the luteinizing hormone beta-subunit gene (LHB) is a rare cause of hypogonadism. We describe the clinical features of a consanguineous family in which three siblings, two men and one woman, had hypogonadism related to isolated luteinizing hormone deficiency. These subjects have a newly discovered homozygous mutation of a 5' splice site in LHB:...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypogonadism

Share to Luteinizing Hormone

Share to Pedigree

Share to Phenotype

Share to Puberty

Share to RNA, Messenger

Source

Identifiers

PMID: 17761593
DOI: 10.1056/NEJMoa071999

Genes

LHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Luteinizing hormone beta mutation and hypogonadism in men and women.PMID 17761593Read ↗

Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone β-Subunit Gene Expressed in a Compound Heterozygous FormSemantic proximity Read ↗

Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene.Semantic proximity Read ↗

A vital region for human glycoprotein hormone trafficking revealed by an LHB mutationSemantic proximity Read ↗

Hypogonadism in a Patient with a Mutation in the Luteinizing Hormone Beta-Subunit GeneSemantic proximity Read ↗

Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.Semantic proximity Read ↗

Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene.Semantic proximity Read ↗

Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone.Semantic proximity Read ↗

Novel Mutations in Human Luteinizing Hormone Beta Subunit Related to Polycystic Ovary Syndrome among Sudanese WomenSemantic proximity Read ↗

FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia.Semantic proximity Read ↗

Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone.Semantic proximity Read ↗

Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants.Semantic proximity Read ↗

Mutations and polymorphisms in gonadotropin genes.Semantic proximity Read ↗

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