Genetics pathogenesis in the ovarian insufficiency

Abstract

Premature Ovarian Failure (POF) is a heterogeneous syndrome characterized by Hypergonadotropic Hypogonadism that affects about 1% of women younger than 40 years old, while an incidence of 1/1000 is reported in women younger than 30 years old. [1] This hormonal disorder is caused by the loss of the ovarian response towards the pituitary gonadrotropins synthesis (FSH and LH) that are secreted according to the inhibitory feedback between hypothalamus, pituitary gland and gonads.

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Ciotta, L. , Pagano, I. , Leanza, V. , Stracquadanio, M. and Pafumi, C. (2012) Genetics pathogenesis in the ovarian insufficiency. Open Journal of Preventive Medicine, 2, 344-349. doi: 10.4236/ojpm.2012.23050.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] Persani, L., Rossetti, R., Cacciatore, C. and Bonomi, M. (2009) Primary ovarian insufficiency: X chromosome defects and autoimmunity. Journal of Autoimmunity, 33, 35-41. doi:10.1016/j.jaut.2009.03.004
[2] Santoro, N. (2003) Mechanism of premature ovarian failure. Annales d Endocrinologie, 64, 87-92.
[3] Timmreck, L.S. and Reindollar, R.H. (2003) Contemporary issues in primary amenorrhea. Obstetrics and Gynecology Clinics of North America, 30, 287-302. doi:10.1016/S0889-8545(03)00027-5
[4] Simpson, J.L. and Rajkovic, A. (1999) Ovarian differentiation and gonadal failure. American Journal of Medical Genetics, 89, 186-200. doi:10.1002/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO;2-5
[5] Goswami, D. and Conway, G.S. (2005) Premature ovarian failure. Human Reproduction Update, 11, 391-410. doi:10.1093/humupd/dmi012
[6] Acherman, J.C., Ozisik, G., Meeks, J.J. and Jameson, J.L. (2002) Perspective: Genetic causes of human reproductive diseases. Journal of Clinical Endocrinology & Metabolism, 87, 2447-2454. doi:10.1210/jc.87.6.2447
[7] Shimasaki, S., Moore, R.K., Otsuka, F. and Erickson, G.F. (2004) The bone morphogenetic protein system in mammalian reproduction. Endocrine Reviews, 25, 72-101. doi:10.1210/er.2003-0007
[8] Beck-Peccoz, P. and Persani, L. (2006) Premature ovar- ian failure. Orphanet Journal of Rare Diseases, 1, 9.
[9] Dube, J.L., Wang, P., Elvin, J., Lyons, K.M., et al. (1998) The bone morphogenetic proteins 15 gene is X-linked and expresses in oocytes. Molecular Endocrinology, 12, 1809-1817. doi:10.1210/me.12.12.1809
[10] Moore, R.K., Otsuka, F. and Shimasaki, S. (2003) Mo- lecular basis of bone morphogenetic protein-15 segnaling in granulosa cells. Journal of Biological Chemistry, 278, 304-310. doi:10.1074/jbc.M207362200
[11] Wallace, W.H. and Kelsey, T.W. (2010) Human ovarian reserve from con-ception to the menopause. PLoS ONE, 5, e8772. doi:10.1371/journal.pone.0008772
[12] Su, H.I. and Freeman, E.W. (2009) Hormone changes associated with the menopausal transition. Minerva Ginecologica, 61, 483-489.
[13] Durlinger, A.L., Visser, J.A. and Them-men, A.P. (2002) Regulation of ovarian function: The role of anti-Mullerian hormone. Reproduction, 124, 601-609. doi:10.1530/rep.0.1240601
[14] Massin, N., Gougeon, A., Meduri, G., Thibaud, E., et al. (2004) Significance 123 of ovarian histology in the management of patients presenting a premature ovarian failure. Human Reproduction, 19, 2555-2560. doi:10.1093/humrep/deh461
[15] Chand, A.L., Harrison, C.A. and Shelling. A.N. (2010) Inhibin and premature ovarian failure. Human Reproduc- tion Update, 16, 39-50. doi:10.1093/humupd/dmp031
[16] Henderson, B.E., Pa-ganini-Hill, A. and Ross, O.K. (1991) Decreased mortality in users of estrogen replacement therapy. Archives of Internal Medicine, 151, 75-78. doi:10.1001/archinte.1991.00400010095012
[17] Sznajderman, M. and Oliver, M.F. (1963) Spontaneous premature menopause, ischaemic heart-disease and serum lipids. Lancet, 281, 962-965. doi:10.1016/S0140-6736(63)91747-1
[18] Walsh, B.W., Schiff, I., Rosner, B. et al. (1991) Effect of postmeno-pausal estrogen replacement on the concentrations and metabolism of plasma lipoproteins. New England Journal of Medicine, 325, 1196-1204. doi:10.1056/NEJM199110243251702
[19] Samsioe, G. (1992) Effects of hormone replacement therapy on lipid metabolism and incidence of cardiovascular disease. In: Samsioe, G., Ed., Cardiovascular disease and HRT. New perspectives. Parthenon Publishing Group, Carnforth, 35-40.
[20] Ciotta, L., Carco, C., Di Grazia, S., Marletta, E., et al. (1996) Ruolo della terapia ormonale sostitutiva in donne affette da menopausa precoce. Contraccezione Fertilità Sessualità, 23, 68-71.
[21] Van Kasteren, Y. (2001) Treatment concepts for premature ovarian failure. Journal of the Society for Gynecologic Investigation, 8, S58-S59.
[22] Ciotta, L., Pagano, I., Stracquadanio, M., Pafumi, C., Teodoro, M.C. and Giuffrida, E. (2010) Innovative genetic, clinical and endocrinological aspects in young females affected with premature ovarian insufficiency. Minerva Ginecologica, 62, 501-507.
[23] Rossetti, R., Di Pasquale, E., Marozzi, A., Bione, S., Toniolo, D., Grammatico, P., Nelson, L.M., Beck-Peccoz, P. and Persani, L. (2009) BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Human Mutation, 30, 804- 810. doi:10.1002/humu.20961
[24] Inagaki, K. and Shimasaki, S. (2010) Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins with mutations in the proregion. Molecular and Cellular Endocrinology, 328, 1-7. doi:10.1016/j.mce.2010.05.017
[25] Simpson, J.L. (2008) Genetic and phenotypic heterogeneity in ovarian failure: Overview of selected candidate genes. Annals of the New York Academy of Sciences, 1135, 146-154. doi:10.1196/annals.1429.019

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