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Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome
Author(s) -
Conway Gerard S.,
Conway Emily,
Walker Caroline
Publication year - 1999
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1046/j.1365-2265.1999.00745.x
Subject(s) - polycystic ovary , premature ovarian failure , follicle stimulating hormone receptor , medicine , endocrinology , biology , ovary , anti müllerian hormone , allele , follicle stimulating hormone , gene , hormone , genetics , luteinizing hormone , insulin resistance , insulin
OBJECTIVE To determine whether mutations in the FSH receptor gene are associated with premature ovarian failure (POF) or resistant ovary syndrome (ROS) in women in the UK. To determine whether an allelic variant of the FSH receptor gene affects fertility parameters in women with polycystic ovary syndrome (PCOS). DESIGN A mutation screen using DNA from women with POF and ROS. Restriction digest of amplified DNA from women with POF, ROS, PCOS and controls to determine allelic variant status. Fertility parameters were compared between allelic variant subgroups of women with PCOS. PATIENTS The study population comprised 49 women with POF, 5 with ROS, 93 with PCOS and 51 controls. MEASUREMENTS In women with PCOS, fertility and menstrual status was recorded and serum FSH and ovarian volume were measured. RESULTS No mutation of the FSH receptor gene was found in women with POF or ROS. The allelic variant Thr 307 /Ser 680 was found to be similarly prevalent in all study groups. The Thr 307 /Ser 680 variant was found to have no phenotype in terms of fertility parameters in women with PCOS. CONCLUSIONS Mutations of the FSH receptor gene are rare in women with premature ovarian failure or resistant ovary syndrome in the UK. Polymorphisms of the FSH receptor gene do not appear to have pathophysiological significance with regard to ovarian function.