Objective: To search for mutations in the coding exons of the follistatin gene of women diagnosed with polycystic ovary syndrome (PCOS).
Design: Controlled clinical study.
Setting: Tertiary institutional hospital.
Patient(s): Thirty-four women diagnosed with PCOS and 15 healthy control women.
Intervention(s): Whole blood and serum samples were collected during the follicular phase of the menstrual cycle.
Main outcome measure(s): Circulating total testosterone (T), sex hormone-binding globulin (SHBG), calculated free T (FT), androstenedione (A), dehydroepiandrosterone-sulfate (DHEAS), LH, FSH, E2, and basal and adenocorticotropic hormone (ACTH)-stimulated 17-hydroxyprogesterone (17-OHP) were determined. Insulin resistance was estimated from fasting glucose and insulin levels, using the homeostasis model assessment. The coding regions of the follistatin gene were studied by heteroduplex analysis after polymerase chain reaction amplification.
Result(s): Women with PCOS presented with higher body-mass index, insulin resistance, T, FT, A, and ACTH-stimulated 17-OHP serum concentrations and lower SHBG serum levels, as compared with controls. No differences were observed among the groups in serum DHEAS, basal 17-OHP, E(2), LH, and FSH. No mutations were found in coding regions of the follistatin gene, with the exception of a G to A change at cDNA position 951, resulting in a silent mutation. This change was present in 2 (5.9%) of 34 patients and 1 (6.7%) of 15 controls.
Conclusion(s): Mutations in the coding regions of the follistatin gene do not appear to be related to PCOS.