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

OBJECTIVE To determine whether mutations in the FSH receptor gene are assoc iated with premature ovarian failure (POF) or resistant ovary syndrome (ROS ) in women in the UK. To determine whether an allelic variant of the FSH re ceptor gene affects fertility parameters in women with polycystic ovary syn drome (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 det ermine allelic variant status, Fertility parameters were compared between a llelic 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 recorde d 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),as found to be similarly preval ent 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 prema ture ovarian failure or resistant ovary syndrome in the UK, Polymorphisms o f the FSH receptor gene do not appear to have pathophysiological significan ce with regard to ovarian function.