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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. Sequence analysis of the FSH beta-subunit gene indicated that she is homozygous for a two nucleotide frameshift deletion in...

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PMID: 8220432
DOI: 10.1038/ng0993-83

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