title: Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome.
abstract: Polycystic ovary syndrome (PCOS) is a heterogeneous and complex disorder that has both adverse reproductive and metabolic implications for affected women. However, there is generally poor understanding of its etiology. Varying expert-based diagnostic criteria utilize some combination of oligo-ovulation, hyperandrogenism, and the presence of polycystic ovaries. Criteria that require hyperandrogenism tend to identify a more severe reproductive and metabolic phenotype. The phenotype can vary by race and ethnicity, is difficult to define in the perimenarchal and perimenopausal period, and is exacerbated by obesity. The pathophysiology involves abnormal gonadotropin secretion from a reduced hypothalamic feedback response to circulating sex steroids, altered ovarian morphology and functional changes, and disordered insulin action in a variety of target tissues. PCOS clusters in families and both female and male relatives can show stigmata of the syndrome, including metabolic abnormalities. Genome-wide association studies have identified a number of candidate regions, although their role in contributing to PCOS is still largely unknown.
authors.affiliation: Department of Obstetrics and Gynecology (D.A.D.), David Geffen School of Medicine at UCLA, Los Angeles, California 90095; Division of Pediatric Endocrinology (S.E.O.), Children's Hospital of New York-Presbyterian, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Physiology (E.S.-V.), Karolinska Institutet, 171 77 Stockholm, Sweden; Center for Research in Reproduction and Division of Endocrinology (J.C.M.), Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22903; Division of Reproductive Medicine (J.S.L.), Department of Obstetrics and Gynecology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands; and Department of Obstetrics and Gynecology (R.S.L.), Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033.
authors.forename: Daniel A
authors.initials: DA
authors.lastname: Dumesic
authors.affiliation: Department of Obstetrics and Gynecology (D.A.D.), David Geffen School of Medicine at UCLA, Los Angeles, California 90095; Division of Pediatric Endocrinology (S.E.O.), Children's Hospital of New York-Presbyterian, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Physiology (E.S.-V.), Karolinska Institutet, 171 77 Stockholm, Sweden; Center for Research in Reproduction and Division of Endocrinology (J.C.M.), Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22903; Division of Reproductive Medicine (J.S.L.), Department of Obstetrics and Gynecology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands; and Department of Obstetrics and Gynecology (R.S.L.), Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033.
authors.forename: Sharon E
authors.initials: SE
authors.lastname: Oberfield
authors.affiliation: Department of Obstetrics and Gynecology (D.A.D.), David Geffen School of Medicine at UCLA, Los Angeles, California 90095; Division of Pediatric Endocrinology (S.E.O.), Children's Hospital of New York-Presbyterian, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Physiology (E.S.-V.), Karolinska Institutet, 171 77 Stockholm, Sweden; Center for Research in Reproduction and Division of Endocrinology (J.C.M.), Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22903; Division of Reproductive Medicine (J.S.L.), Department of Obstetrics and Gynecology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands; and Department of Obstetrics and Gynecology (R.S.L.), Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033.
authors.forename: Elisabet
authors.initials: E
authors.lastname: Stener-Victorin
authors.affiliation: Department of Obstetrics and Gynecology (D.A.D.), David Geffen School of Medicine at UCLA, Los Angeles, California 90095; Division of Pediatric Endocrinology (S.E.O.), Children's Hospital of New York-Presbyterian, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Physiology (E.S.-V.), Karolinska Institutet, 171 77 Stockholm, Sweden; Center for Research in Reproduction and Division of Endocrinology (J.C.M.), Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22903; Division of Reproductive Medicine (J.S.L.), Department of Obstetrics and Gynecology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands; and Department of Obstetrics and Gynecology (R.S.L.), Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033.
authors.forename: John C
authors.initials: JC
authors.lastname: Marshall
authors.affiliation: Department of Obstetrics and Gynecology (D.A.D.), David Geffen School of Medicine at UCLA, Los Angeles, California 90095; Division of Pediatric Endocrinology (S.E.O.), Children's Hospital of New York-Presbyterian, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Physiology (E.S.-V.), Karolinska Institutet, 171 77 Stockholm, Sweden; Center for Research in Reproduction and Division of Endocrinology (J.C.M.), Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22903; Division of Reproductive Medicine (J.S.L.), Department of Obstetrics and Gynecology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands; and Department of Obstetrics and Gynecology (R.S.L.), Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033.
authors.forename: Joop S
authors.initials: JS
authors.lastname: Laven
authors.affiliation: Department of Obstetrics and Gynecology (D.A.D.), David Geffen School of Medicine at UCLA, Los Angeles, California 90095; Division of Pediatric Endocrinology (S.E.O.), Children's Hospital of New York-Presbyterian, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Physiology (E.S.-V.), Karolinska Institutet, 171 77 Stockholm, Sweden; Center for Research in Reproduction and Division of Endocrinology (J.C.M.), Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22903; Division of Reproductive Medicine (J.S.L.), Department of Obstetrics and Gynecology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands; and Department of Obstetrics and Gynecology (R.S.L.), Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033.
authors.forename: Richard S
authors.initials: RS
authors.lastname: Legro
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*