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 language | English |
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Pages (from-to) | 83-86 |
Number of pages | 4 |
Journal | Nature Genetics |
Volume | 5 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1993 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)