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

doi:10.1038/ng0993-83

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Article

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

Nature genetics - 1 Sept 1993

Matthews C H, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A, Chatterjee V K

Abstract excerpt

We report a woman with primary amenorrhoea and infertility associated with an isolated deficiency of pituitary follicle-stimulating hormone (FSH), but normal luteinizing hormone (LH) secretion. Ovulation was induced by administration of exogenous FSH and resulted in a successful pregnancy. Sequen...

Topics

Adult
Amenorrhea
Amino Acid Sequence
Base Sequence
Female
Follicle Stimulating Hormone
Follicle Stimulating Hormone, beta Subunit
Frameshift Mutation
Humans
Infant, Newborn
Infertility, Female
Molecular Sequence Data
Ovulation Induction
Phenotype
Pregnancy

Source

Open in PubMed

Identifiers

PMID: 8220432
DOI: 10.1038/ng0993-83

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8220432-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Sequence Deletion