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Article

FSHbeta gene mutation in a female with delayed puberty and hypogonadism: response to recombinant human FSH.

Folia histochemica et cytobiologica - 1 Jan 2009

Kottler M L, Richard N, Chabre O, Alain S, Young J

Abstract excerpt

We report a woman with primary amenorrhoea and infertility associated with an isolated deficiency of pituitary FSH that does not respond to GnRH administration. Serum inhibin B was undetectable and antimullerian hormone (AMH) was within the normal range. Ultra sound examination revealed a small uterus and small ovaries with few small follicles. We identified an homozygous 1-bp (G) deletion at codon 79 in FSHbeta...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follicle Stimulating Hormone, beta Subunit

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Source

Identifiers

PMID: 20067895
DOI: 10.2478/v10042-009-0054-7

Genes

AMH

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.

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