{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:33:13Z","timestamp":1790713993775,"version":"4.1.0"},"reference-count":28,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,9,1]]},"abstract":"<jats:p>Context: Polycystic ovary syndrome (PCOS) is a common endocrinopathy of uncertain etiology but with strong evidence for a genetic contribution.<\/jats:p>\n               <jats:p>Objective: The objective of the study was to test the hypothesis that the typical polycystic ovarian morphology is a marker of inherited biochemical features in families of women with PCOS.<\/jats:p>\n               <jats:p>Design: A study of probands with PCOS and their sisters.<\/jats:p>\n               <jats:p>Patients: Patients included 125 probands and 214 sisters. All probands had PCOS, defined by symptoms of anovulation and\/or hyperandrogenism with polycystic ovaries on ultrasound. Affected sisters were defined by polycystic ovaries, regardless of symptoms, and unaffected sisters defined by normal ovarian morphology.<\/jats:p>\n               <jats:p>Setting: This was a clinic-based study.<\/jats:p>\n               <jats:p>Main Outcome Measures: Clinical, endocrine, and metabolic features in the various groups were compared, and estimates of broad-sense heritability were obtained using the quantitative transmission disequilibrium test.<\/jats:p>\n               <jats:p>Results: Although affected sisters had fewer symptoms than probands (30% had no symptoms of PCOS), serum testosterone, androstenedione, LH, and fasting insulin and insulin sensitivity were similar in the two groups with polycystic ovaries but significantly different from those in unaffected sisters or controls. We observed moderate to high heritabilities for all traits studied in affected sister pairs, whereas heritabilities calculated from discordant siblings were substantially lower.<\/jats:p>\n               <jats:p>Conclusions: These data provide further evidence for a genetic basis of PCOS. The high heritability of biochemical features in probands and affected sisters, despite wide variation in symptoms, shows that not only are these biochemical traits strongly influenced by genetic factors but also, importantly, that polycystic ovarian morphology is an index of inherited traits in families with PCOS.<\/jats:p>","DOI":"10.1210\/jc.2008-0369","type":"journal-article","created":{"date-parts":[[2008,6,18]],"date-time":"2008-06-18T00:45:06Z","timestamp":1213749906000},"page":"3396-3402","source":"Crossref","is-referenced-by-count":73,"title":["Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries"],"prefix":"10.1210","volume":"93","author":[{"given":"Stephen","family":"Franks","sequence":"first","affiliation":[{"name":"Institute of Reproductive and Developmental Biology (S.F., L.J.W.), Imperial College London, London W12 ONN, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa J.","family":"Webber","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Developmental Biology (S.F., L.J.W.), Imperial College London, London W12 ONN, United Kingdom"},{"name":"Reproductive Medicine Unit (L.J.W., M.G., A.V., D.M.W.), St. Mary\u2019s Hospital, London W2 1PG, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micaela","family":"Goh","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Unit (L.J.W., M.G., A.V., D.M.W.), St. Mary\u2019s Hospital, London W2 1PG, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Valentine","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Unit (L.J.W., M.G., A.V., D.M.W.), St. Mary\u2019s Hospital, London W2 1PG, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davinia M.","family":"White","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Unit (L.J.W., M.G., A.V., D.M.W.), St. Mary\u2019s Hospital, London W2 1PG, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard S.","family":"Conway","sequence":"additional","affiliation":[{"name":"Department of Endocrinology (G.S.C.), University College Hospital, London NW1 2BU, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Wiltshire","sequence":"additional","affiliation":[{"name":"Oxford Centre for Diabetes, Endocrinology, and Metabolism (S.W., M.I.M.), University of Oxford, Oxford OX3 7LJ, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark I.","family":"McCarthy","sequence":"additional","affiliation":[{"name":"Oxford Centre for Diabetes, Endocrinology, and Metabolism (S.W., M.I.M.), University of Oxford, Oxford OX3 7LJ, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071613561270000_R1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1111\/j.1365-2265.1979.tb03077.x","article-title":"The inheritance of polycystic ovarian disease and a possible relationship to premature balding.","volume":"11","author":"Ferriman","year":"1979","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R2","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S0889-8529(18)30409-2","article-title":"Familial polycystic ovarian disease.","volume":"17","author":"Givens","year":"1988","journal-title":"Endocrinol Metab Clin North Am"},{"key":"2020071613561270000_R3","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1111\/j.1365-2265.1988.tb03707.x","article-title":"Familial polycystic ovaries: a genetic disease?","volume":"29","author":"Hague","year":"1988","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R4","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1159\/000293493","article-title":"Familial clustering in the polycystic ovarian syndrome.","volume":"28","author":"Lunde","year":"1989","journal-title":"Gynecol Obstet Invest"},{"key":"2020071613561270000_R5","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1111\/j.1365-2265.1993.tb02150.x","article-title":"Evidence for a single gene effect causing polycystic ovaries and male pattern baldness.","volume":"38","author":"Carey","year":"1993","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R6","doi-asserted-by":"crossref","first-page":"9S","DOI":"10.1016\/S0002-9343(99)80053-9","article-title":"The genetics of polycystic ovary syndrome","volume":"98","author":"Legro","year":"1995","journal-title":"Am J Med"},{"key":"2020071613561270000_R7","doi-asserted-by":"crossref","first-page":"14956","DOI":"10.1073\/pnas.95.25.14956","article-title":"Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome.","volume":"95","author":"Legro","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071613561270000_R8","doi-asserted-by":"crossref","first-page":"2128","DOI":"10.1210\/jcem.87.5.8513","article-title":"Insulin resistance in the sisters of women with polycystic ovary syndrome: association with hyperandrogenemia rather than menstrual irregularity.","volume":"87","author":"Legro","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071613561270000_R9","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.1210\/jc.2005-1494","article-title":"Heritability of polycystic ovary syndrome (PCOS) in a Dutch twin-family study.","volume":"91","author":"Vink","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071613561270000_R10","doi-asserted-by":"crossref","first-page":"2641","DOI":"10.1093\/humrep\/12.12.2641","article-title":"The genetic basis of polycystic ovary syndrome.","volume":"12","author":"Franks","year":"1997","journal-title":"Hum Reprod"},{"key":"2020071613561270000_R11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1677\/joe.0.1740001","article-title":"Developmental origin of polycystic ovary syndrome\u2014a hypothesis.","volume":"174","author":"Abbott","year":"2002","journal-title":"J Endocrinol"},{"key":"2020071613561270000_R12","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1210\/jc.2002-021499","article-title":"Glucose intolerance, insulin resistance, and hyperandrogenemia in first degree relatives of women with polycystic ovary syndrome","volume":"88","author":"Yildiz","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071613561270000_R13","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1007\/BF03347535","article-title":"Presence of metabolic risk factors in non-obese PCOS sisters: evidence of heritability of insulin resistance.","volume":"27","author":"Diamanti-Kandarakis","year":"2004","journal-title":"J Endocrinol Invest"},{"key":"2020071613561270000_R14","first-page":"377","article-title":"Diagnostic criteria for polycystic ovary syndrome: towards a rational approach","author":"Zawadzki","year":"1992","journal-title":"In: Dunaif A, Givens JR, Haseltine FP, Merriam GR ed. Polycystic ovary syndrome. Oxford, UK: Blackwell Scientific Publications;"},{"key":"2020071613561270000_R15","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1093\/humrep\/deh098","article-title":"Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS).","volume":"19","author":"The Rotterdam ESHRE\/ASRM-Sponsored PCOS Consensus Workshop Group","year":"2004","journal-title":"Hum Reprod"},{"key":"2020071613561270000_R16","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1365-2265.1989.tb00457.x","article-title":"Polycystic ovary syndrome: a changing perspective.","volume":"31","author":"Franks","year":"1989","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R17","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/j.1365-2265.1989.tb00446.x","article-title":"Heterogeneity of the polycystic ovary syndrome: clinical, endocrine and ultrasound features in 556 patients.","volume":"30","author":"Conway","year":"1989","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R18","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/S0140-6736(88)91612-1","article-title":"Polycystic ovaries\u2014a common finding in normal women.","volume":"1","author":"Polson","year":"1988","journal-title":"Lancet"},{"key":"2020071613561270000_R19","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1046\/j.1365-2265.1997.2321049.x","article-title":"Evidence for a primary abnormality of thecal cell steroidogenesis in the polycystic ovary syndrome.","volume":"47","author":"Gilling-Smith","year":"1997","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R20","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1136\/bmj.293.6543.355","article-title":"Prevalence of polycystic ovaries in women with anovulation and idiopathic hirsutism.","volume":"293","author":"Adams","year":"1986","journal-title":"Br Med J (Clin Res Ed)"},{"key":"2020071613561270000_R21","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1111\/j.1365-2265.1987.tb00813.x","article-title":"The distribution of oestradiol in plasma in relation to uterine cross-sectional area in women with polycystic or multifollicular ovaries.","volume":"26","author":"Polson","year":"1987","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R22","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1046\/j.1365-2265.2003.01820.x","article-title":"Insulin resistance and \u03b2-cell dysfunction in normoglycaemic European women with a history of gestational diabetes.","volume":"59","author":"Kousta","year":"2003","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R23","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1007\/BF00280883","article-title":"Homeostasis model assessment: insulin resistance and \u03b2-cell function from fasting plasma glucose and insulin concentrations in man.","volume":"28","author":"Matthews","year":"1985","journal-title":"Diabetologia"},{"key":"2020071613561270000_R24","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1086\/302698","article-title":"A general test of association for quantitative traits in nuclear families.","volume":"66","author":"Abecasis","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2020071613561270000_R25","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/sj.ejhg.5200494","article-title":"Pedigree tests of transmission disequilibrium.","volume":"8","author":"Abecasis","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"2020071613561270000_R26","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/j.1365-2265.1990.tb00857.x","article-title":"Differences in clinical and endocrine features between obese and non-obese subjects with polycystic ovary syndrome: an analysis of 263 consecutive cases.","volume":"32","author":"Kiddy","year":"1990","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R27","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1111\/j.1365-2265.1992.tb02296.x","article-title":"How common are polycystic ovaries in normal women and what is their significance for the fertility of the population?","volume":"37","author":"Clayton","year":"1992","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2020071613561270000_R28","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1111\/j.1479-828X.1994.tb01041.x","article-title":"The prevalence of polycystic ovaries on ultrasound scanning in a population of randomly selected women.","volume":"34","author":"Farquhar","year":"1994","journal-title":"Aust N Z J Obstet Gynaecol"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/93\/9\/3396\/9058001\/jcem3396.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/93\/9\/3396\/9058001\/jcem3396.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T00:59:30Z","timestamp":1594947570000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/93\/9\/3396\/2596709"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,1]]},"references-count":28,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2008,9,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2008-0369","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,1]]}}}