The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
The genetic basis of polycystic ovary syndrome
Abstract
Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age. Familial clustering of cases suggests that genetic factors play an important part in its aetiology. A number of studies of families with several cases of PCOS have produced results suggesting an autosomal dominant trait. Detailed analysis of a large number of affected families has, however, cast some doubt about the mode of inheritance. An autosomal dominant trait remains possible but a more complex aetiology seems more likely. The results of our recent studies support the concept of an oligogenic disorder in which genes affecting metabolic pathways in glucose homeostasis and steroid biosynthesis are both involved. We review evidence for an important role for the insulin gene minisatellite in the aetiology of anovulatory PCOS and for the gene coding for P450 cholesterol side chain cleavage (CYP11a) in the mechanism of excessive androgen secretion in women with polycystic ovaries. We propose that the heterogeneity of clinical and biochemical features in PCOS can be explained by the interaction of a small number of key genes with environmental, particularly nutritional, factors.
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Cites
Bennett, S. T., Lucassen, A. M., Gough, S. C. L., Powell, E. E., Undlien, D. E., Pritchard, L. E., Merriman, M. E., Kawaguchi, Y., Dronsfield, M. J., Pociot, F., et al. (1995) · Nature Genetics · doi:10.1038/ng0395-284 · Cited by 746
Dunaif, A., Xia, J., Book, C. B., Schenker, E., & Tang, Z. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118126 · Cited by 561
Holte, J., Bergh, T., Berne, C., Wide, L., & Lithell, H. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.9.7673399 · Cited by 435
Ehrmann, D. A., Sturis, J., Byrne, M. M., Karrison, T., Rosenfield, R. L., & Polonsky, K. S. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118064 · Cited by 426
Evidence for a primary abnormality of thecal cell steroidogenesis in the polycystic ovary syndrome
Gilling‐Smith, C., Story, H., Rogers, V., & Franks, S. (1997) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1997.2321049.x · Cited by 301
Self-citationIto, Y., Fisher, C. R., Conte, F. A., Grumbach, M. M., & Simpson, E. R. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.24.11673 · Cited by 218
Hereditary factors in the Stein-Leventhal syndrome
Cooper, H. E., Spellacy, W. N., Prem, K. A., & Cohen, W. D. (1968) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(15)33704-2 · Cited by 211
Cited by
Diamanti-Kandarakis, E., & Dunaif, A. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1034 · Cited by 1,947
Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome
Legro, R. S., Driscoll, D., Strauss, J. F., Fox, J., & Dunaif, A. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.25.14956 · Cited by 699
Nelson, V. L., Legro, R. S., Strauss, J. F., & McAllister, J. M. (1999) · Molecular Endocrinology · doi:10.1210/mend.13.6.0311 · Cited by 556
Developmental origin of polycystic ovary syndrome—a hypothesis
Abbott, D., Dumesic, D., & Franks, S. (2002) · Journal of Endocrinology · doi:10.1677/joe.0.1740001 · Cited by 504
Self-citationPrevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS
Kahsar-Miller, M. D., Nixon, C., Boots, L. R., Go, R. C., & Azziz, R. (2001) · Fertility and Sterility · doi:10.1016/s0015-0282(00)01662-9 · Cited by 406
Metadata
- Authors
- Franks, S., Gharani, N., Waterworth, D., Batty, S., White, D., Williamson, R., & McCarthy, M.
- Venue
- Human Reproduction
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-12-01
- Volume
- 12
- Issue
- 12
- Pages
- 2641-2648
- ISSN
- 0268-1161 (ISSN-L)
- 1460-2350
- OpenAlex
- W2101574413
- Cited by
- 291
- References
- 7
- FWCI
- 13.19
- Type
- journal article
- Language
- en
- Open access
- closed
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