Genetic aspects of premature ovarian failure: A literature review

Archives of Gynecology and Obstetrics

Volumn 283, Issue 3, 2011, Pages 635-643

  Cordts, Emerson Barchi ^a   Christofolini, Denise Maria ^a   Dos Santos, Aline Amaro ^a   Bianco, Bianca ^a   Barbosa, Caio Parente ^a  

^a FACULDADE DE MEDICINA DO ABC   (Brazil)

Author keywords

Chromosomal abnormalities; Genetics; Infertility; Polymorphism; Premature ovarian failure

Indexed keywords

ESTROGEN; FOLLITROPIN; INHIBIN; LUTEINIZING HORMONE;

AMENORRHEA; AMINO ACID SUBSTITUTION; BONE MORPHOGENETIC PROTEIN 15 GENE; CHROMOSOME REARRANGEMENT; CYP19A1 GENE; ESTROGEN RECEPTOR ALPHA GENE; ESTROGEN RECEPTOR BETA GENE; FEMALE INFERTILITY; FOLLICLE STIMULATING HORMONE RECEPTOR GENE; FORKHEAD BOX L2 GENE; FORKHEAD BOX O3 GENE; FRAGILE X E MENTAL RETARDATION SYNDROME GENE; FRAGILE X MENTAL RETARDATION 1 GENE; FRAGILE X SYNDROME; GENE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HYPERGONADOTROPISM; INHIBIN ALPHA GENE; KARYOTYPE 45,X; KARYOTYPE 47,XXX; LUTEINIZING HORMONE RECEPTOR GENE; MENOPAUSE; MISSENSE MUTATION; NONHUMAN; PREMATURE OVARIAN FAILURE; REVIEW; SPLICING FACTOR 1 GENE; TURNER SYNDROME;

CHROMOSOMES, HUMAN, X; ESTROGENS; FEMALE; FOLLICLE STIMULATING HORMONE; GENE REARRANGEMENT; GONADAL DYSGENESIS; HUMANS; INHIBINS; LUTEINIZING HORMONE; PRIMARY OVARIAN INSUFFICIENCY; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT; TRISOMY; TURNER SYNDROME;

EID: 79951727216     PISSN: 09320067     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00404-010-1815-4     Document Type: Review

References (80)

1. Santoro N (2003) Mechanisms of premature ovarian failure. Ann Endocrinol 64:87-92
2. Goswami D, Conway GS (2005) Premature ovarian failure. Hum Reprod Update 11(4):391-410 (Pubitemid 40895467)
3. Vilodre LC, Moretto M, Kohek MB, Spritzer PM (2007) Premature ovarian failure: present aspects. Arq Bras Endocrinol Metabol 51(6):920-929
4. Welt CK (2008) Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf) 68(4):499-509
5. Timmreck LS, Reindollar RH (2003) Contemporary issues in primary amenorrhea. Obstet Gynecol Clin North Am 30(2):287-302
6. Van Kasteren YM, Schoemaker J (1999) Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy. Hum Reprod Update 5:483-492 (Pubitemid 29512134)
7. Beck-Peccoz P, Persani L (2006) Premature ovarian failure. Orphanet J Rare Dis 1:9
8. Fassnacht W, Mempel A, Strowitzki T, Vogt PH (2006) Premature ovarian failure (POF) syndrome: towards the molecular clinical analysis of its genetic complexity. Curr Med Chem 13(12):1397-1410
9. Bretherick KL, Hanna CW, Currie LM, Fluker MR, Hammond GL, Robinson WP (2008) Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure. Fertil Steril 89(2):318-324 (Pubitemid 351215408)
10. Goswami D, Conway GS (2007) Premature ovarian failure. Horm Res 68(4):196-202 (Pubitemid 350194933)
11. Conway GS, Hettiarachchi S, Murray A, Jacobs PA (1995) Fragile X premutations in familial premature ovarian failure. Lancet 346(8970):309-310
12. Sherman SL (2000) Premature ovarian failure in the fragile X syndrome. Am J Med Genet 97:189-194
13. Bianco B, Oliveira KC, Guedes AD, Barbosa CP, Lipay MV, Verreschi IT (2010) OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome. Fertil Steril 94(6):2347-2349
14. Bianco B, Nunes Lipay MV, Guedes AD, Verreschi IT (2008) Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases. Fertil Steril 90(4):1197.e17-1197.e20
15. Simpson JL, Rajkovic A (1999) Ovarian differentiation and gonadal failure. Am J Med Genet 89:186
16. Ogata T, Matsuo N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95:607-629
17. Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L (2010) A review of trisomy X (47, XXX). Orphanet J Rare Dis 5:8
18. Linden MG, Bender BG, Harmon RJ, Mrazek DA, Robinson A (1988) 47, XXX: what is the prognosis? Pediatrics 82(4):619-630
19. Lin HJ, Ndiforchu F, Patell S (1993) Exstrophy of the cloaca in a 47, XXX child: review of genitourinary malformations in triple-X patients. Am J Med Genet 45(6):761-763 (Pubitemid 23077329)
20. Villanueva AL, Rebar RW (1983) Triple-X syndrome and premature ovarian failure. Obstet Gynecol 62(3 Suppl):70s-73s
21. Goswami R, Goswami D, Kabra M, Gupta N, Dubey S, Dadhwal V (2003) Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. Fertil Steril 80(4):1052-1054 (Pubitemid 37230048)
22. Persani L, Rossetti R, Cacciatore C, Bonomi M (2009) Primary ovarian insufficiency: X chromosome defects and autoimmunity. J Autoimmun 33(1):35-41
23. Sybert VP, McCauley E (2004) Turner's syndrome. N Engl J Med 351(12):1227-1238
24. Hogan BL (1996) Bmps: multifunctional regulators of mammalian embryonic development. Harvey Lect 92:83-98
25. McNatty KP, Juengel JL, Reader KL, Lun S, Myllymaa S, Lawrence SB et al (2005) Bone morphogenetic protein 15 and growth differentiation factor 9 co-operate to regulate granulosa cell function in ruminants. Reproduction 129:481-487 (Pubitemid 40542174)
26. Galloway SM, McNatty KP, Cambridge LM, Laitinen MP, Juengel JL, Jokiranta TS et al (2000) Mutations in an oocytederived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nat Genet 25:279-283 (Pubitemid 30437312)
27. Di Pasquale E, Beck-Peccoz P, Persani L (2004) Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 75:106-111 (Pubitemid 38801906)
28. Zinn AR, Tonk VS, Chen Z, Flejter WL, Gardner HA, Guerra R et al (1998) Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet 63:1757-1766 (Pubitemid 30415739)
29. McNatty KP, Smith P, Moore LG, Reader K, Lun S, Hanrahan JP et al. (2005) Oocyte-expressed genes affecting ovulation rate. Mol Cell Endocrinol 29:234(1-2):57-66 (Pubitemid 40514454)
30. Tiotiu D, Alvaro Mercadal B, Imbert R, Verbist J, Demeestere I, De Leener A et al (2010) Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. Hum Reprod 25(6):1581-1587
31. Zhang P, Shi YH, Wang LC, Chen ZJ (2007) Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure. Acta Obstet Gynecol Scand 86(5):585-589 (Pubitemid 46676313)
32. Ledig S, Röpke A, Haeusler G, Hinney B, Wieacker P (2008) BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. Am J Obstet Gynecol 98(1):84.e1-84.e5
33. Amiri K, Hagerman RJ, Hagerman PJ (2008) Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene. Arch Neurol 65:19-25
34. Martin JR, Arici A (2008) Fragile X and reproduction. Curr Opin Obstet Gynecol 20(3):216-220 (Pubitemid 351643507)
35. Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A et al (2006) Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129(Pt 1):243-255 (Pubitemid 43063775)
36. Allen EG, Sullivan AK, Marcus M, Small C, Dominguez C, Epstein MP et al (2007) Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod 22:2142-2152 (Pubitemid 47241859)
37. Christofolini DM, Pinheiro FS, Bianco B, Melaragno MI, Ramos AP, Brunoni D et al (2009) Síndrome de tremos e ataxia associada ao X frágil: rastreamento por PCR em amostras de idosos. Arq Bras Ciências Saúde 34:1-5
38. Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA et al (2004) Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74:1051-1056 (Pubitemid 38568975)
39. Corrigan EC, Raygada MJ, Vanderhoof VH, Nelson LM (2005) A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome. Fertil Steril 84(5):1508
40. Lin YS, Yang ML (2006) Familial premature ovarian failure in female premutated carriers of fragile X syndrome: a case report and literature review. Taiwan J Obstet Gynecol 45(1):60-63
41. Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, He W et al (2005) Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 20:402-412 (Pubitemid 40277608)
42. Murray A, Webb J, Dennis N, Conway G, Morton N (1999) Microdeletions in FMR2 may be a significant cause of premature ovarian failure. J Med Genet 36(10):767-770 (Pubitemid 29462321)
43. Risma KA, Clay CM, Nett TM, Wagner T, Yun J, Nilson JH (1995) Targeted overexpression of luteinizing hormone in transgenic mice leads to infertility, polycystic ovaries, and ovarian tumors. Proc Natl Acad Sci USA 92:1322-1326
44. Liao WX, Roy AC, Chan C, Arulkumaran S, Ratnam SS (1998) A new molecular variant of luteinizing hormone associated with female infertility. Fertil Steril 69(1):102-106 (Pubitemid 28073001)
45. Piersma D, Verhoef-Post M, Berns EM, Themmen AP (2007) LH receptor gene mutations and polymorphisms: an overview. Mol Cell Endocrinol 282(6):260-262
46. Sundblad V, Chiauzzi VA, Escobar ME, Dain L, Charreau EH (2004) Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF). Mol Cell Endocrinol 222(1-2): 53-59 (Pubitemid 38900815)
47. Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J et al. (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82:959-968
48. Vilodre LC, Kohek MB, Spritzer PM (2008) Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype. J Endocrinol Invest 31(6):552-557
49. Ghadami M, El-Demerdash E, Salama SA, Binhazim AA, Archibong AE, Chen X et al (2010) Toward gene therapy of premature ovarian failure: intraovarian injection of adenovirus expressing human FSH receptor restores folliculogenesis in FSHR(-/-) FORKO mice. Mol Hum Reprod 16(4):241-250
50. Burger HG (1992) Inhibin. Reprod Med Rev 1:1-20
51. Groome NP, Illingworth PJ, O'Brien M, Cooke I, Ganesan TS, Baird DT et al (1994) Detection of dimeric inhibin throughout the human menstrual cycle by two-site enzyme immunoassay. Clin Endocrinol (Oxf) 40(6):717-723 (Pubitemid 24216620)
52. Groome NP, Illingworth PJ, O'Brien M, Pai R, Rodger FE, Mather JP et al (1996) Measurement of dimeric inhibin B throughout the human menstrual cycle. J Clin Endocrinol Metab 81(4):1401-1405 (Pubitemid 26119665)
53. Ying SY (1988) Inhibins, activins, and follistatins: gonadal proteins modulating the secretion of follicle-stimulating hormone. Endocr Rev 9:267-293
54. Shelling AN, Burton KA, Chand AL, van Ee CC, France JT, Farquhar CM et al (2000) Inhibin: a candidate gene for premature ovarian failure. Hum Reprod 15(12):2644-2649 (Pubitemid 32000524)
55. Marozzi A, Vegetti W, Manfredini E, Tibiletti MG, Testa G, Crosignani PG et al (2000) Association between idiopathic premature ovarian failure and fragile X premutation. Hum Reprod 15(8):1874-1875
56. Harris SE, Chand AL, Winship IM, Gersak K, Nishi Y, Yanase T et al. (2005) INHA promoter polymorphisms are associated with premature ovarian failure. Mol Hum Reprod 11:779-84.40
57. Dixit H, Rao KL, Padmalatha V, Kanakavalli M, Deenadayal M, Gupta N et al (2006) Expansion of the germline analysis for the INHA gene in Indian women with ovarian failure. Hum Reprod 21(6):1643-1644 (Pubitemid 44445049)
58. Woad KJ, Watkins WJ, Prendergast D, Shelling AN (2006) The genetic basis of premature ovarian failure. Aust NZ J Obstet Gynaecol 46:242-244 (Pubitemid 44056734)
59. Sundblad V, Chiauzzi VA, Andreone L, Campo S, Charreau EH, Dain L (2006) Controversial role of inhibin alpha-subunit gene in the aetiology of premature ovarian failure. Hum Repro 21(5):1154-1160
60. Santoro N, Adel T, Skurnick JH (1999) Decreased inhibin tone and increased activin A secretion characterize reproductive aging in women. Fertil Steril 71:658-662 (Pubitemid 29149415)
61. Pisarska MD, Bae J, Klein C, Hsueh AJ (2004) Forkhead l2 is expressed in the ovary and represses the promoter activity of the steroidogenic acute regulatory gene. Endocrinology 145:3424-3433 (Pubitemid 38830015)
62. Schmidt D, Ovitt CE, Anlag K, Fehsenfeld S, Gredsted L, Treier AC et al (2004) The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. Development 131:933-942 (Pubitemid 38263207)
63. Uda M, Ottolenghi C, Crisponi L, Garcia JE, Deiana M, Kimber W et al (2004) Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. Hum Mol Genet 13:1171-1181 (Pubitemid 38786999)
64. Jeyasuria P, Ikeda Y, Jamin SP, Zhao L, De Rooij DG, Themmen AP et al (2004) Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function. Mol Endocrinol 18:1610-1619 (Pubitemid 38859570)
65. Park M, Shin E, Won M, Kim JH, Go H, Kim HL et al (2010) FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells. Mol Endocrinol 24(5):1024-1036
66. Watkins WJ, Umbers AJ, Woad KJ, Harris SE, Winship IM, Gersak K et al (2006) Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure. Fertil Steril 86(5):1518-1521 (Pubitemid 44602042)
67. Castrillon DH, Miao L, Kollipara R, Horner JW, DePinho RA (2003) Suppression of ovarian follicle activation in mice by the transcription factor Foxo3a. Science 301(5630):215-218 (Pubitemid 36858475)
68. Yoon SH, Choi YM, Hong MA, Lee GH, Kim JJ, Im HJ et al (2010) Estrogen receptor alpha gene polymorphisms in patients with idiopathic premature ovarian failure. Hum Reprod 25(1):283-287
69. Lindzey J, Jayes FL, Yates MM, Couse JF, Korach KS (2006) The bi-modal effects of estradiol on gonadotropin synthesis and secretion in female mice are dependent on estrogen receptor-alpha. J Endocrinol 191(1):309-317 (Pubitemid 44756532)
70. Walter P, Green S, Greene G, Krust A, Bornert JM, Jeltsch JM et al (1985) Cloning of the human estrogen receptor cDNA. Proc Natl Acad Sci USA 82(23):7889-7893 (Pubitemid 16179869)
71. Mosselman S, Polman J, Dijkema R (1996) ER beta: identification and characterization of a novel human estrogen receptor. FEBS Lett 392(1):49-53 (Pubitemid 26268330)
72. Kolibianakis EM, Papanikolaou EG, Fatemi HM, Devroey P (2005) Estrogen and folliculogenesis: is one necessary for the other? Curr Opin Obstet Gynecol 17(3):249-253
73. Weel AE, Uitterlinden AG, Westendorp IC, Burger H, Schuit SC, Hofman A et al (1999) Estrogen receptor polymorphism predicts the onset of natural and surgical menopause. J Clin Endocrinol Metab 84(9):3146-3150 (Pubitemid 30646935)
74. Stavrou I, Zois C, Ioannidis JP, Tsatsoulis A (2002) Association of polymorphisms of the oestrogen receptor alpha gene with the age of menarche. Hum Reprod 17(4):1101-1105 (Pubitemid 34411153)
75. Syrrou M, Georgiou I, Patsalis PC, Bouba I, Adonakis G, Pagoulatos GN (1999) Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction. Am J Med Genet 84(3):306-308 (Pubitemid 29206990)
76. Kim S, Pyun JA, Kang H, Kim J, Cha DH, Kwack K (2010) Epistasis between CYP19A1 and ESR1 polymorphisms is associated with premature ovarian failure. Fertil Steril [Epub ahead of print]
77. Shelling AN (2010) Premature ovarian failure. Reproduction 140(5):633-641
78. Bidet M, Bachelot A, Touraine P (2008) Premature ovarian failure: predictability of intermittent ovarian function and response to ovulation induction agents. Current Opin Obstet Gynaecol 20:416-420
79. Picton HM, Harris SE, Muruvoi W, Chambers EL (2008) The in vitro growth and maturation of follicles. Reproduction 136:703-715
80. van Kasteren Y, Schoemaker J (1999) Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy. Hum Reprod Update 5:483-492