TY - CHAP M1 - Book, Section TI - Polycystic Ovary Syndrome A1 - Ketefian, Aline A1 - Goodarzi, Mark A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Polycystic ovary syndrome (PCOS) is a highly prevalent and complex genetic disorder affecting reproductive aged women. Its characteristics include clinical and/or biochemical androgen excess, ovulatory dysfunction, and polycystic ovaries (PCOs). Women with PCOS are at increased risk for infertility, obesity, insulin resistance, glucose intolerance, type 2 diabetes mellitus (T2DM), dyslipidemia, and cardiovascular disease.Hereditary basis:There is an increased prevalence of PCOS among family members. Approximately 20% to 40% of first-degree female relatives of women with PCOS are affected by the condition, compared to a prevalence of 6% to 10% in the general population. A twin-family study showed 71% concordance in monozygotic twins, compared to 38% concordance in dizygotic twins and other sisters. The phenotypic components of PCOS, including hirsutism, hyperandrogenemia, oligomenorrhea, acne, and insulin resistance, are also increased in families of women with PCOS.Differential diagnosis:It is important to exclude thyroid dysfunction, hyperprolactinemia, nonclassical congenital adrenal hyperplasia, androgen-secreting neoplasms (ovarian and adrenal), Cushing syndrome, use of exogenous androgens, acromegaly, primary hypothalamic amenorrhea, primary ovarian failure, hyperandrogenism/insulin resistance/acanthosis nigricans (HAIRAN) syndrome (often with lipodystrophy), and syndromes characterized by insulin receptor gene mutations. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/04/19 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102703908 ER -