title: Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone.
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 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.
authors.affiliation: Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.
authors.forename: C H
authors.initials: CH
authors.lastname: Matthews
authors.forename: S
authors.initials: S
authors.lastname: Borgato
authors.forename: P
authors.initials: P
authors.lastname: Beck-Peccoz
authors.forename: M
authors.initials: M
authors.lastname: Adams
authors.forename: Y
authors.initials: Y
authors.lastname: Tone
authors.forename: G
authors.initials: G
authors.lastname: Gambino
authors.forename: S
authors.initials: S
authors.lastname: Casagrande
authors.forename: G
authors.initials: G
authors.lastname: Tedeschini
authors.forename: A
authors.initials: A
authors.lastname: Benedetti
authors.forename: V K
authors.initials: VK
authors.lastname: Chatterjee
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000188:drug therapy / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D005640:Follicle Stimulating Hormone / Q000172:deficiency / Q000235:genetics* / Q000627:therapeutic use; D037201:Follicle Stimulating Hormone, beta Subunit; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D007247:Infertility, Female / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D008969:Molecular Sequence Data; D010062:Ovulation Induction; D010641:Phenotype; D011247:Pregnancy; D017384:Sequence Deletion
chemical_list: D037201:Follicle Stimulating Hormone, beta Subunit; D005640:Follicle Stimulating Hormone