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Volumn 28, Issue 2, 1999, Pages 379-396

Polycystic ovary syndrome: Phenotype to genotype

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; FAMILY HISTORY; FEMALE; FEMALE INFERTILITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE; HIRSUTISM; HUMAN; MARKER GENE; MENSTRUAL IRREGULARITY; OVARY POLYCYSTIC DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0032977462     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8529(05)70075-X     Document Type: Article
Times cited : (42)

References (45)
  • 1
    • 0024602863 scopus 로고
    • Pituitary-ovarian responses to nafarelin testing in the polycystic ovary syndrome
    • R.B. Barnes R.L. Rosenfield S. Burstein Pituitary-ovarian responses to nafarelin testing in the polycystic ovary syndrome N Engl J Med 320 1989 559 565
    • (1989) N Engl J Med , vol.320 , pp. 559-565
    • Barnes, R.B.1    Rosenfield, R.L.2    Burstein, S.3
  • 2
    • 0027196489 scopus 로고
    • Evidence for a single gene effect causing polycystic ovaries and male pattern baldness
    • A.H. Carey K.L. Chan F. Short Evidence for a single gene effect causing polycystic ovaries and male pattern baldness Clin Endocrinol 38 1993 653 658
    • (1993) Clin Endocrinol , vol.38 , pp. 653-658
    • Carey, A.H.1    Chan, K.L.2    Short, F.3
  • 3
    • 0028024363 scopus 로고
    • Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17
    • A.H. Carey D. Waterworth K. Patel Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17 Hum Mol Genet 3 1994 1873 1876
    • (1994) Hum Mol Genet , vol.3 , pp. 1873-1876
    • Carey, A.H.1    Waterworth, D.2    Patel, K.3
  • 4
    • 0006427464 scopus 로고    scopus 로고
    • Polycystic Ovary Syndrome
    • R.J. Chang Polycystic Ovary Syndrome 1996 Springer Verlag Boston, MA
    • (1996)
    • Chang, R.J.1
  • 5
    • 0016620061 scopus 로고
    • Polycystic ovarian disease, maturation arrest of spermiogenesis, and Klinefelter's syndrome in siblings of a family with familial hirsutism
    • P.N. Cohen J.R. Givens W.L. Wiser Polycystic ovarian disease, maturation arrest of spermiogenesis, and Klinefelter's syndrome in siblings of a family with familial hirsutism Fertil Steril 26 1975 1228 1238
    • (1975) Fertil Steril , vol.26 , pp. 1228-1238
    • Cohen, P.N.1    Givens, J.R.2    Wiser, W.L.3
  • 6
    • 0031017322 scopus 로고    scopus 로고
    • A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2
    • A.G. Comuzzie J.E. Hixson L. Almasy A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2 Nat Genet 15 1997 273 276
    • (1997) Nat Genet , vol.15 , pp. 273-276
    • Comuzzie, A.G.1    Hixson, J.E.2    Almasy, L.3
  • 7
    • 0028132564 scopus 로고
    • The tyrosine kinase domain of the insulin receptor gene is normal in women with hyperinsulinaemia and polycystic ovary syndrome
    • G.S. Conway C. Avey G. Rumsby The tyrosine kinase domain of the insulin receptor gene is normal in women with hyperinsulinaemia and polycystic ovary syndrome Hum Reprod 9 1994 1681 1683
    • (1994) Hum Reprod , vol.9 , pp. 1681-1683
    • Conway, G.S.1    Avey, C.2    Rumsby, G.3
  • 8
    • 0023886987 scopus 로고
    • DNA polymorphism and the study of disease associations
    • D.N. Cooper J.F. Clayton DNA polymorphism and the study of disease associations Hum Genet 78 1988 299 312
    • (1988) Hum Genet , vol.78 , pp. 299-312
    • Cooper, D.N.1    Clayton, J.F.2
  • 9
    • 0030742850 scopus 로고    scopus 로고
    • Definition and significancce of polycystic ovaries
    • D. Dewailly Definition and significancce of polycystic ovaries Baillieres Clin Obstet Gynaecol 11 1997 349 368
    • (1997) Baillieres Clin Obstet Gynaecol , vol.11 , pp. 349-368
    • Dewailly, D.1
  • 10
    • 0023189131 scopus 로고
    • Characterization of groups of hyperandrogenic women with acanthosis nigricans, impaired glucose tolerance, and/or hyperinsulinemia
    • A. Dunaif M. Graf J. Mandeli Characterization of groups of hyperandrogenic women with acanthosis nigricans, impaired glucose tolerance, and/or hyperinsulinemia J Clin Endocrinol Metab 65 1987 499 507
    • (1987) J Clin Endocrinol Metab , vol.65 , pp. 499-507
    • Dunaif, A.1    Graf, M.2    Mandeli, J.3
  • 11
    • 0003481501 scopus 로고
    • Polycystic Ovary Syndrome: Current Issues in Endocrinology and Metabolism
    • A. Dunaif J.R. Givens F.P. Haseltine Polycystic Ovary Syndrome: Current Issues in Endocrinology and Metabolism 1992 Blackwell Scientific Publications Boston
    • (1992)
    • Dunaif, A.1    Givens, J.R.2    Haseltine, F.P.3
  • 12
    • 0028044645 scopus 로고
    • The prevalence of polycystic ovaries on ultrasound scanning in a population of randomly selected women
    • C.M. Farquhar M. Birdsall P. Manning The prevalence of polycystic ovaries on ultrasound scanning in a population of randomly selected women Aust NZ J Obstet Gynaecol 34 1994 67 72
    • (1994) Aust NZ J Obstet Gynaecol , vol.34 , pp. 67-72
    • Farquhar, C.M.1    Birdsall, M.2    Manning, P.3
  • 13
    • 0018606011 scopus 로고
    • The inheritance of polycystic ovarian disease and a possible relationship to premature balding
    • D. Ferriman A.W. Purdie The inheritance of polycystic ovarian disease and a possible relationship to premature balding Clin Endocrinol 11 1979 291 300
    • (1979) Clin Endocrinol , vol.11 , pp. 291-300
    • Ferriman, D.1    Purdie, A.W.2
  • 14
    • 0029095150 scopus 로고
    • Polycystic ovary syndrome
    • S. Franks Polycystic ovary syndrome N Engl J Med 333 1995 853 861
    • (1995) N Engl J Med , vol.333 , pp. 853-861
    • Franks, S.1
  • 15
    • 16044372273 scopus 로고    scopus 로고
    • 5′ polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries
    • N. Gharani D.M. Waterworth R. Williamson 5′ polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries J Clin Endocrinol Metab 81 1996 4174
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4174
    • Gharani, N.1    Waterworth, D.M.2    Williamson, R.3
  • 16
    • 0031049755 scopus 로고    scopus 로고
    • Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism
    • N. Gharani D.M. Waterworth S. Batty Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism Hum Mol Genet 6 1997 397 402
    • (1997) Hum Mol Genet , vol.6 , pp. 397-402
    • Gharani, N.1    Waterworth, D.M.2    Batty, S.3
  • 17
    • 0030031579 scopus 로고    scopus 로고
    • Genetic analysis of niddm: The study of quantitative traits
    • S. Ghosh N.J. Schork Genetic analysis of niddm: The study of quantitative traits Diabetes 45 1996 1 14
    • (1996) Diabetes , vol.45 , pp. 1-14
    • Ghosh, S.1    Schork, N.J.2
  • 18
    • 0000402662 scopus 로고
    • Familial ovarian hyperthecosis: A study of two families
    • J.R. Givens W.L. Wiser S.A. Coleman Familial ovarian hyperthecosis: A study of two families Am J Obstet Gynecol 110 1971 959 972
    • (1971) Am J Obstet Gynecol , vol.110 , pp. 959-972
    • Givens, J.R.1    Wiser, W.L.2    Coleman, S.A.3
  • 19
  • 20
    • 0024268235 scopus 로고
    • Familial polycystic ovaries: A genetic disease?
    • W.M. Hague J. Adams S.T. Reeders Familial polycystic ovaries: A genetic disease? Clin Endocrinol 29 1988 593 605
    • (1988) Clin Endocrinol , vol.29 , pp. 593-605
    • Hague, W.M.1    Adams, J.2    Reeders, S.T.3
  • 21
    • 0027292401 scopus 로고
    • New approaches to the study of the neuroendocrine abnormalities of women with the polycystic ovarian syndrome
    • J.E. Hall A.E. Taylor K.A. Martin New approaches to the study of the neuroendocrine abnormalities of women with the polycystic ovarian syndrome Ann NY Acad Sci 87 1993 182 192
    • (1993) Ann NY Acad Sci , vol.87 , pp. 182-192
    • Hall, J.E.1    Taylor, A.E.2    Martin, K.A.3
  • 22
    • 0021334928 scopus 로고
    • Polycystic ovarian syndrome in identical twins
    • C. Hutton F. Clark Polycystic ovarian syndrome in identical twins Postgrad Med J 60 1984 64 65
    • (1984) Postgrad Med J , vol.60 , pp. 64-65
    • Hutton, C.1    Clark, F.2
  • 23
    • 0028931828 scopus 로고
    • A twin study of polycystic ovary syndrome
    • S. Jahanfar J.A. Eden P. Warren A twin study of polycystic ovary syndrome Fertil Steril 63 1995 478 486
    • (1995) Fertil Steril , vol.63 , pp. 478-486
    • Jahanfar, S.1    Eden, J.A.2    Warren, P.3
  • 24
    • 0031773509 scopus 로고    scopus 로고
    • Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern united states: A prospective study
    • E.S. Knochenhauer T.J. Key M. Kahsar-Miller Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern united states: A prospective study J Clin Endocrinol Metab 83 1998 3078 3082
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3078-3082
    • Knochenhauer, E.S.1    Key, T.J.2    Kahsar-Miller, M.3
  • 25
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • E.S. Lander N.J. Schork Genetic dissection of complex traits Science 265 1994 2037 2048
    • (1994) Science , vol.265 , pp. 2037-2048
    • Lander, E.S.1    Schork, N.J.2
  • 26
    • 0023109899 scopus 로고
    • Familial hypersecretion of adrenal androgens transmitted as a dominant, non-HLA linked trait
    • P.A. Lee C.J. Migeon W.B. Bias Familial hypersecretion of adrenal androgens transmitted as a dominant, non-HLA linked trait Obstet Gynecol 69 1987 259 264
    • (1987) Obstet Gynecol , vol.69 , pp. 259-264
    • Lee, P.A.1    Migeon, C.J.2    Bias, W.B.3
  • 27
    • 0028183566 scopus 로고
    • Association of dopamine D2 receptor gene haplotypes with anovulation and fecundity in female Hispanics
    • 2 receptor gene haplotypes with anovulation and fecundity in female Hispanics Hum Reprod 9 1994 1271 1275
    • (1994) Hum Reprod , vol.9 , pp. 1271-1275
    • Legro, R.S.1    Dietz, G.W.2    Comings, D.E.3
  • 28
    • 0028238319 scopus 로고
    • Size polymorphisms of the androgen receptor among female Hispanics and correlation with androgenic characteristics
    • R.S. Legro B. Shahbahrami R.A. Lobo Size polymorphisms of the androgen receptor among female Hispanics and correlation with androgenic characteristics Obstet Gynecol 83 1994 701 706
    • (1994) Obstet Gynecol , vol.83 , pp. 701-706
    • Legro, R.S.1    Shahbahrami, B.2    Lobo, R.A.3
  • 29
    • 0028988282 scopus 로고
    • A dopamine D3 receptor genotype is associated with hyperandrogenic chronic anovulation and resistant to ovulation induction with clomiphene citrate in female Hispanics
    • 3 receptor genotype is associated with hyperandrogenic chronic anovulation and resistant to ovulation induction with clomiphene citrate in female Hispanics Fertil Steril 63 1995 779 784
    • (1995) Fertil Steril , vol.63 , pp. 779-784
    • Legro, R.S.1    Muhleman, D.R.2    Comings, D.E.3
  • 30
    • 0032428506 scopus 로고    scopus 로고
    • Evidence for a genetic basis for hyperandrogenemia in the polycystic ovary syndrome
    • R.S. Legro D. Driscoll J.F. Strauss Evidence for a genetic basis for hyperandrogenemia in the polycystic ovary syndrome Proc Natl Acad Sci USA 98 1998 14956 14960
    • (1998) Proc Natl Acad Sci USA , vol.98 , pp. 14956-14960
    • Legro, R.S.1    Driscoll, D.2    Strauss, J.F.3
  • 31
    • 0024392667 scopus 로고
    • Familial clustering in the polycystic ovarian syndrome
    • O. Lunde P. Magnus L. Sandvik Familial clustering in the polycystic ovarian syndrome Gynecol Obstet Invest 28 1989 23 30
    • (1989) Gynecol Obstet Invest , vol.28 , pp. 23-30
    • Lunde, O.1    Magnus, P.2    Sandvik, L.3
  • 32
    • 0015510016 scopus 로고
    • Steroid, follicle-stimulating hormone, and luteinizing hormone profiles in identical twins with polycystic ovaries
    • P.G. McDonough V.B. Mahesh J.O. Ellegood Steroid, follicle-stimulating hormone, and luteinizing hormone profiles in identical twins with polycystic ovaries Am J Obstet Gynecol 113 1972 1072 1078
    • (1972) Am J Obstet Gynecol , vol.113 , pp. 1072-1078
    • McDonough, P.G.1    Mahesh, V.B.2    Ellegood, J.O.3
  • 33
    • 0031757587 scopus 로고    scopus 로고
    • Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (hsd17b3)
    • N. Moghrabi I.A. Hughes A. Dunaif Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (hsd17b3) J Clin Endocrinol Metab 83 1998 2855 2860
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2855-2860
    • Moghrabi, N.1    Hughes, I.A.2    Dunaif, A.3
  • 34
    • 0027550258 scopus 로고
    • Sex hormone–binding globulin: A marker for hyperinsulinemia and/or insulin resistance?
    • J.E. Nestler Sex hormone–binding globulin: A marker for hyperinsulinemia and/or insulin resistance? J Clin Endocrinol Metab 76 1993 273 274
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 273-274
    • Nestler, J.E.1
  • 35
    • 0030473142 scopus 로고    scopus 로고
    • Hyperinsulinemia is common in family members of women with polycystic ovary syndrome
    • R.J. Norman S. Masters W. Hague Hyperinsulinemia is common in family members of women with polycystic ovary syndrome Fertil Steril 66 1996 942 947
    • (1996) Fertil Steril , vol.66 , pp. 942-947
    • Norman, R.J.1    Masters, S.2    Hague, W.3
  • 36
    • 0023879442 scopus 로고
    • Polycystic ovaries—a common finding in normal women
    • D.W. Polson J. Adams J. Wadsworth Polycystic ovaries—a common finding in normal women Lancet 1 1988 870 872
    • (1988) Lancet , vol.1 , pp. 870-872
    • Polson, D.W.1    Adams, J.2    Wadsworth, J.3
  • 37
    • 0030045070 scopus 로고    scopus 로고
    • Polymorphism of glycogen synthetase gene in polycystic ovary syndrome
    • M. Rajkhowa J.A. Talbot P.W. Jones Polymorphism of glycogen synthetase gene in polycystic ovary syndrome Clin Endocrinol 44 1996 85 90
    • (1996) Clin Endocrinol , vol.44 , pp. 85-90
    • Rajkhowa, M.1    Talbot, J.A.2    Jones, P.W.3
  • 38
    • 0025019555 scopus 로고
    • Linkage strategies for genetically complex traits. I. Multilocus models
    • N. Risch Linkage strategies for genetically complex traits. I. Multilocus models Am J Hum Genet 46 1990 222 228
    • (1990) Am J Hum Genet , vol.46 , pp. 222-228
    • Risch, N.1
  • 39
    • 0029073973 scopus 로고
    • Ultrasound assessment of ovarian stroma hypertrophy in hyperandrogenism and ovulation disorders: Visual analysis versus computerized quantification
    • Y. Robert F. Dubrulle L. Gaillandre Ultrasound assessment of ovarian stroma hypertrophy in hyperandrogenism and ovulation disorders: Visual analysis versus computerized quantification Fertil Steril 64 1995 307 312
    • (1995) Fertil Steril , vol.64 , pp. 307-312
    • Robert, Y.1    Dubrulle, F.2    Gaillandre, L.3
  • 40
    • 0015868425 scopus 로고
    • Episodic luteinizing hormone secretion in man: Pulse analysis, clinical interpretation, physiologic mechanisms
    • R.J. Santen C.W. Bardin Episodic luteinizing hormone secretion in man: Pulse analysis, clinical interpretation, physiologic mechanisms J Clin INvest 52 1973 2617 2628
    • (1973) J Clin INvest , vol.52 , pp. 2617-2628
    • Santen, R.J.1    Bardin, C.W.2
  • 41
    • 0029858544 scopus 로고    scopus 로고
    • The TDT and other family-based tests for linkage disequilibrium and association [editorial]
    • R.S. Spielman W.J. Ewens The TDT and other family-based tests for linkage disequilibrium and association [editorial] Am J Hum Genet 59 1996 983 989
    • (1996) Am J Hum Genet , vol.59 , pp. 983-989
    • Spielman, R.S.1    Ewens, W.J.2
  • 42
    • 0030988978 scopus 로고    scopus 로고
    • Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states
    • K. Techatraisak G.S. Conway G. Rumsby Frequency of a polymorphism in the regulatory region of the 17 alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states Clin Endocrinol 46 1997 131 134
    • (1997) Clin Endocrinol , vol.46 , pp. 131-134
    • Techatraisak, K.1    Conway, G.S.2    Rumsby, G.3
  • 43
    • 0030895556 scopus 로고    scopus 로고
    • Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome
    • D.M. Waterworth S.T. Bennett N. Gharani Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome Lancet 349 1997 986 990
    • (1997) Lancet , vol.349 , pp. 986-990
    • Waterworth, D.M.1    Bennett, S.T.2    Gharani, N.3
  • 44
    • 0017335027 scopus 로고
    • Inheritance of low erythrocyte catechol-o-methyltransferase activity in man
    • R.M. Weinshilboum F.A. Raymond Inheritance of low erythrocyte catechol-o-methyltransferase activity in man Am J Hum Genet 29 1977 125 135
    • (1977) Am J Hum Genet , vol.29 , pp. 125-135
    • Weinshilboum, R.M.1    Raymond, F.A.2
  • 45
    • 0016684936 scopus 로고
    • Hyperthecosis: An inheritable form of polycystic ovarian disease
    • Wilroy R.S. Jr J.R. Givens W.L. Wiser Hyperthecosis: An inheritable form of polycystic ovarian disease Birth Defects 11 1975 81 85
    • (1975) Birth Defects , vol.11 , pp. 81-85
    • Wilroy, R.S.1    Givens, J.R.2    Wiser, W.L.3


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