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

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

Research output: Contribution to journalArticle

Abstract

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 FSHβ-subunit gene indicated that she is homozygous for a two nucleotide frameshift deletion in the coding sequence. Her mother and son are heterozygous for this mutation. This deletion results in an alteration of amino acid codons 61-86 followed by a premature termination codon. The predicted truncated β-subunit peptide lacks regions which are important for association with the α subunit and for binding to and activation of the FSH receptor. Abnormalities of FSH structure or function might be an under recognised but treatable cause of infertility.

Original languageEnglish
Pages (from-to)83-86
Number of pages4
JournalNature Genetics
Volume5
Issue number1
DOIs
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Matthews, C. H., Borgato, S., Beck-Peccoz, P., Adams, M., Tone, Y., Gambino, G., Casagrande, S., Tedeschini, G., Benedetti, A., & Chatterjee, V. K. K. (1993). Primary amenorrhoea and infertility due to a mutation in the β-subunit of follicle-stimulating hormone. Nature Genetics, 5(1), 83-86. https://doi.org/10.1038/ng0993-83