Role of the follistatin gene in women with polycystic ovary syndrome

Objective: To search for mutations in the coding exons of the follistatin g ene 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 wo men. Intervention(s): Whole blood and serum samples were collected during the fo llicular phase of the menstrual cycle. Main Outcome Measure(s): Circulating total testosterone (T), sex hormone-bi nding globulin (SHBG), calculated free T (FT), androstenedione (A), dehydro epiandrosterone-sulfate (DHEAS), LH, FSH, E-2, and basal and adenocorticotr opic hormone (ACTH)-stimulated 17-hydroxyprogesterone (17-OHP) were deter m ined. Insulin resistance was estimated from fasting glucose and insulin lev els, using the homeostasis model assessment. The coding regions of the foll istatin gene were studied by heteroduplex analysis after polymerase chain r eaction amplification. Result(s): Women with PCOS presented with higher body-mass index, insulin r esistance, T, FT, A, and ACTH-stimulated 17-OHP serum concentrations and lo wer SHBG serum levels, as compared with controls. No differences were obser ved among the groups in serum DHEAS, basal 17-OHP, E-2, LH, and FSH. No mut ations were found in coding regions of the follistatin gene, with the excep tion of a G to A change at cDNA position 951, resulting in a silent mutatio n. This change was present in 2 (5.9%) of 34 patients and 1 (6.7%) of 15 co ntrols. Conclusion(s): Mutations in the coding regions of the follistatin gene do n ot appear to be related to PCOS. (Fertil Steril(R) 2001;75:1020-3. (C) 2001 by American Society for Reproductive Medicine.).