caa a22 4500 445306955 CHVBK 20180317142616.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s00404-010-1815-4 doi (NATIONALLICENCE)springer-10.1007/s00404-010-1815-4 Genetic aspects of premature ovarian failure: a literature review [Elektronische Daten] [Emerson Cordts, Denise Christofolini, Aline dos Santos, Bianca Bianco, Caio Barbosa] Background: The diagnosis of premature ovarian failure (POF) is based on the finding of amenorrhea before the age of 40years associated with follicle-stimulating hormone levels in the menopausal range. It is a heterogeneous disorder affecting approximately 1% of women <40years, 1:10,000 women by age 20years and 1:1,000 women by age 30years. POF is generally characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (LH and FSH) (hypergonadotropic amenorrhea). Methods: Review of significant articles regarding genetic causes that are associated with POF. Results: Heterogeneity of POF is reflected by a variety of possible causes, including autoimmunity, toxics, drugs, as well as genetic defects. Changes at a single autosomal locus and many X-linked loci have been implicated in women with POF. X chromosome abnormalities (e.g., Turner syndrome) represent the major cause of primary amenorrhea associated with ovarian dysgenesis. Many genes have been involved in POF development, among them BMP15, FMR1, FMR2, LHR, FSHR, INHA, FOXL2, FOXO3, ERα, SF1, ERβ and CYP19A1 genes. Conclusion: Despite the description of several candidate genes, the cause of POF remains undetermined in the vast majority of cases. Springer-Verlag, 2010 Premature ovarian failure nationallicence Infertility nationallicence Genetics nationallicence Chromosomal abnormalities nationallicence Polymorphism nationallicence Cordts Emerson Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut Christofolini Denise Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut dos Santos Aline Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut Bianco Bianca Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut Barbosa Caio Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut Archives of Gynecology and Obstetrics Springer-Verlag 283/3(2011-03-01), 635-643 0932-0067 283:3<635 2011 283 404 https://doi.org/10.1007/s00404-010-1815-4 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00404-010-1815-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Cordts Emerson Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut NATIONALLICENCE 700 1- Christofolini Denise Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut NATIONALLICENCE 700 1- dos Santos Aline Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut NATIONALLICENCE 700 1- Bianco Bianca Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut NATIONALLICENCE 700 1- Barbosa Caio Division of Human Reproduction, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Avenida Príncipe de Gales, 821, CEP 09060-650, Santo André, SP, Brazil aut NATIONALLICENCE 773 0- Archives of Gynecology and Obstetrics Springer-Verlag 283/3(2011-03-01), 635-643 0932-0067 283:3<635 2011 283 404 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer