Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey

Engin Oral1, Guven Toksoy2, Nigar Sofiyeva1, Hale Goksever Celik3, Birsen Karaman2, Seher Basaran2, Asli Azami1, Zehra Oya Uyguner2
1Istanbul University, Cerrahpasa Medical Faculty, Department of Obstetrics and Gynecology, Istanbul, Turkey
2Istanbul University, Istanbul Medical Faculty, Department of Medical Genetics, Turkey
3Saglik Bilimleri University Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Department of Obstetrics and Gynecology, Istanbul, Turkey

Tài liệu tham khảo

Welt, 2008, Primary ovarian insufficiency: a more accurate term for premature ovarian failure, Clin Endocrinol, 68, 499, 10.1111/j.1365-2265.2007.03073.x Nelson, 2009, Clinical practice. Primary ovarian insufficiency, N Eng J Med, 360, 606, 10.1056/NEJMcp0808697 Webber, 2016, ESHRE Guideline: management of women with premature ovarian insufficiency, Hum Reprod, 31, 926, 10.1093/humrep/dew027 van Kasteren, 1999, Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?, Hum Reprod, 14, 2455, 10.1093/humrep/14.10.2455 Sala, 1997, Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21, Genomics, 40, 123, 10.1006/geno.1996.4542 Allingham-Hawkins, 1999, Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data, Am J Med Genet, 83, 322, 10.1002/(SICI)1096-8628(19990402)83:4<322::AID-AJMG17>3.0.CO;2-B Fortuño, 2014, Genetics of primary ovarian insufficiency: a review, J Assist Reprod Genet, 31, 1573, 10.1007/s10815-014-0342-9 Speroff, 2005, Amenorrhea, 401 Sherry, 2001, dbSNP: the NCBI database of genetic variation, Nucleic Acids Res, 29, 308, 10.1093/nar/29.1.308 Schwarz, 2014, MutationTaster2: mutation prediction for the deep-sequencing age, Nat Methods, 11, 361, 10.1038/nmeth.2890 Adzhubei, 2010, A method and server for predicting damaging missense mutations, Nat Methods, 7, 248, 10.1038/nmeth0410-248 Kumar, 2009, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm, Nat Protoc, 4, 1073, 10.1038/nprot.2009.86 Lek, 2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, 536, 285, 10.1038/nature19057 2017, The UniProt Consortium. UniProt: the universal protein knowledgebase, Nucleic Acids Res, 45, D158, 10.1093/nar/gkw1099 Tšuiko, 2016, Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases, Hum Reprod, 31, 1913, 10.1093/humrep/dew142 Shelling, 2010, Premature ovarian failure, Reproduction., 140, 633, 10.1530/REP-09-0567 Dawood, 2018, Premature ovarian failure of autoimmune etiology in 46XX patients: is there a hope?, J Complement Integr Med Ebrahimi, 2015, The role of autoimmunity in premature ovarian failure, Iran J Reprod Med, 13, 461 Xia, 2018, Clinical research and the effect mechanism on premature ovarian failure treated with acupuncture in recent 20 years, Zhongguo Zhen Jiu, 38, 5653 Gowri, 2015, Aetiological profile of women presenting with premature ovarian failure to a single tertiary care center in Oman, Post Reprod Health, 21, 63, 10.1177/2053369115587419 Haller-Kikkatalo, 2015, The prevalence and phenotypic characteristics of spontaneous premature ovarian failure: a general population registry-based study, Hum Reprod, 30, 1229, 10.1093/humrep/dev021 Meczekalski, 2010, Genetics of premature ovarian failure, Minerva Endocrinol, 35, 195 Fortuño, 2014, Genetics of primary ovarian insufficiency: a review, J Assist Reprod Genet, 31, 1573, 10.1007/s10815-014-0342-9 Ceylaner, 2010, Genetic abnormalities in Turkish women with premature ovarian failure, Int J Gynaecol Obstet, 110, 122, 10.1016/j.ijgo.2010.03.023 Utine, 2018, Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry, Eur J Obstet Gynecol Reprod Biol, 221, 76, 10.1016/j.ejogrb.2017.12.028 Geckinli, 2014, Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency, Eur J Obstet Gynecol Reprod Biol, 182, 211, 10.1016/j.ejogrb.2014.09.033 Makker, 2014, PI3K/PTEN/Akt and TSC/mTOR signaling pathways, ovarian dysfunction, and infertility: an update, J Mol Endocrinol, 53, R103, 10.1530/JME-14-0220 Katari, 2015, Novel inactivating mutation of the FSH receptor in two siblings of indian origin with premature ovarian failure, J Clin Endocrinol Metab, 100, 2154, 10.1210/jc.2015-1401 Lin, 2008, Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development, Sex Dev, 2, 200, 10.1159/000152036 Zhao, 2007, Orphan nuclear receptor function in the ovary, Front Biosci., 12, 3398, 10.2741/2321 Luo, 1994, A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation, Cell, 77, 481, 10.1016/0092-8674(94)90211-9 Tantawy, 2014, Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development, Eur J Endocrinol, 170, 759, 10.1530/EJE-13-0965 Coutant, 2007, Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome, J Clin Endocrinol Metab, 92, 2868, 10.1210/jc.2007-0024 Camats, 2012, Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals, J Clin Endocrinol Metab, 97, E1294, 10.1210/jc.2011-3169 Lourenço, 2009, Mutations in NR5A1 associated with ovarian insufficiency, N Engl J Med, 360, 1200, 10.1056/NEJMoa0806228 Warman, 2011, Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects, Horm Res Paediatr, 75, 70, 10.1159/000320029 Suntharalingham, 2015, DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease, Best Pract Res Clin Endocrinol Metab, 29, 607, 10.1016/j.beem.2015.07.004 Domenice, 2016, Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals, Birth Defects Res C Embryo Today, 108, 309 Mora, 2004, PDK1, the master regulator of AGC kinase signal transduction, Semin Cell Dev Biol, 15, 161, 10.1016/j.semcdb.2003.12.022 Markholt, 2012, Global gene analysis of oocytes from early stages in human folliculogenesis shows high expression of novel genes in reproduction, Mol Hum Reprod, 18, 96, 10.1093/molehr/gar083 Reddy, 2009, PDK1 signaling in oocytes controls reproductive aging and lifespan by manipulating the survival of primordial follicles, Hum Mol Genet, 18, 2813, 10.1093/hmg/ddp217 Riva, 1996, FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure, Clin Genet, 50, 267, 10.1111/j.1399-0004.1996.tb02642.x Lacombe, 2006, Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure, Am J Hum Genet, 79, 113, 10.1086/505406 Ledig, 2015, Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3), Sex Dev, 9, 86, 10.1159/000373906 Suzumori, 2007, Candidate genes for premature ovarian failure, Curr Med Chem, 14, 353, 10.2174/092986707779941087