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

Nat Genet. 1993 Sep;5(1):83-6. doi: 10.1038/ng0993-83.


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 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 beta-subunit peptide lacks regions which are important for association with the alpha 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amenorrhea / drug therapy
  • Amenorrhea / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Female
  • Follicle Stimulating Hormone / deficiency
  • Follicle Stimulating Hormone / genetics*
  • Follicle Stimulating Hormone / therapeutic use
  • Follicle Stimulating Hormone, beta Subunit
  • Frameshift Mutation*
  • Humans
  • Infant, Newborn
  • Infertility, Female / epidemiology
  • Infertility, Female / etiology
  • Infertility, Female / genetics*
  • Molecular Sequence Data
  • Ovulation Induction
  • Phenotype
  • Pregnancy
  • Sequence Deletion*


  • Follicle Stimulating Hormone, beta Subunit
  • Follicle Stimulating Hormone