Chromosomal abnormalities in women with premature ovarian failure

Gynecological Endocrinology

Volumn 26, Issue 10, 2010, Pages 717-724

  Artini, Paolo Giovanni ^a   Ruggiero, Maria ^a   Papini, Francesca ^a   Valentino, Valeria ^a   Uccelli, Alessia ^a   Cela, Vito ^a   Genazzani, Andrea Riccardo ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

Assisted reproductive technology; chromosomal abnormalities; infertility; pregnancy; premature ovarian failure

Indexed keywords

AUTOANTIBODY; DNA POLYMERASE; ESTROGEN RECEPTOR ALPHA; FOLLITROPIN RECEPTOR; G PROTEIN COUPLED RECEPTOR 30; INHIBIN A; INITIATION FACTOR 2; LUTEINIZING HORMONE RECEPTOR; NOGGIN; TRANSCRIPTION FACTOR FOXO; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ATAXIA TELANGIECTASIA; AUTOIMMUNE DISEASE; AUTOSOMAL DISORDER; BLEPHAROPHIMOSIS; CHROMOSOME ABERRATION; CYTOMEGALOVIRUS INFECTION; FEMALE; FRAGILE X SYNDROME; GALACTOSEMIA; GENE MUTATION; HERPES ZOSTER; HUMAN; IATROGENIC DISEASE; INFERTILITY THERAPY; MULTIPLE MALFORMATION SYNDROME; MUMPS; PATIENT COUNSELING; PREGNANCY; PREGNANT WOMAN; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PTOSIS; REVIEW; TURNER SYNDROME; X CHROMOSOME ABERRATION;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; INHIBINS; MEMBRANE PROTEINS; MUTATION; PRIMARY OVARIAN INSUFFICIENCY; RECEPTORS, FSH; RECEPTORS, LH; RECEPTORS, PROGESTERONE;

EID: 77956525868     PISSN: 09513590     EISSN: 14730766     Source Type: Journal    
DOI: 10.3109/09513590.2010.500427     Document Type: Review

References (112)

1. Santoro N. Mechanisms of premature ovarian failure. Ann Endocrinol 2003;64:87-92.
2. Timmreck LS, Reindollar RH. Contemporary issues in primary amenorrhea. Obstet Gynecol Clin North Am 2003; 30:287-302.
3. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol 1986;67:604-606.
4. Conway GS, Kaltsas G, Patel A, Davies MC, Jacobs HS. Characterization of idiopathic premature ovarian failure. Fertil Steril 1996;64:337-341.
5. Cramer DW, Xu H, Harlow BL. Family history as a predictor of early menopause. Fertil Steril 1995;64:740-745.
6. Torgerson DJ, Thomas RE, Reid DM. Mothers and daughters menopausal ages: is there a link? Eur J Obstet Gynecol Reprod Biol 1997;74:63-66.
7. Kalantaridou SN, Nelson LM. Premature ovarian failure is not premature menopause. Ann NY Acad Sci 2000;900:393-402.
8. Nelson LM, Bakalov VK. Mechanisms of follicular dysfunction in 46,XX spontaneous premature ovarian failure. Endocrinol Metab Clin North Am 2003;32:613-637.
9. Vandborg M, Lauszus FF. Premature ovarian failure and pregnancy. Arch Gynecol Obstet 2006;273:387-388.
10. Kalantaridou SN, Davis SR, Nelson LM. Premature ovarian failure. Endocrinol Metab Clin North Am 1998;27:989-1006.
11. Persani L, Rossetti R, Cacciatore C, Bonomi M. Primary ovarian insufficiency: X chromosome defects and autoimmu-nity. J Autoimmun 2009;33:35-41.
12. Christin-Maitre S, Vasseur C, Portnoi MF, Bouchard P. Genes and premature ovarian failure. Mol Cell Endocrinol 1998;145:75-80. Review.
13. Hovatta O. Pregnancies in women with Turner's syndrome. Ann Med 1999;31:106-110.
14. Hreinsson JG, Otala M, Fridstrom M, Borgstrom B, Rasmussen C, Lundqvist M, Tuuri T, Simberg N, Mikkola M, Dunkel L, et al. Follicles are found in the ovaries of adolescent girls with Turner's syndrome. J Clin Endocrinol Metab 2002;87:3618-3623.
15. Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben Rafael Z. Turner's syndrome and fertility: current status and possible putative prospects. Hum Reprod Update 2001;7: 603-610. Review.
16. Waelkens JJ. Turner's syndrome in mother and daughter. Ned Tijdschr Geneeskd 2004;148:1208-1210.
17. Brown WT, Nolin S, Houck G Jr, Ding X, Glicksman A, Li SY, Stark-Houck S, Brophy P, Duncan C, Dobkin C, et al. Prenatal diagnosis and carrier screening for fragile X by PCR. Am J Med Genet 1996;64:191-195.
18. Castellví-Bel S, Sánchez A, Badenas C, Mallolas J, Barceló A, Jiménez D, Villa M, Estivill X, Milá M. Single-strand comformation polymorphism analysis in the FMR1 gene. Am J Med Genet 1999;84:262-265.
19. Kallinen J, Heinonen S, Mannermaa A, Ryynanen M. Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation. Clin Genet 2000;58:111-115.
20. Willemsen R, Oostra BA. FMRP detection assay for the diagnosis of the fragile X syndrome. Am J Med Genet 2000;97:183-188.
21. Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D, Holden JJ, Yang KT, Lee C, Hudson R, Gorwill H, Nolin SL, Glicksman A, et al. 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 1999;83:322-325.
22. Bussani C, Papi L, Sestini R, Baldinotti F, Bucciantini S, Bruni V, Scarselli G. Premature ovarian failure and fragile X premutation: a study on 45 women. Eur J Obstet Gynecol Reprod Biol 2004;112:189-191.
23. Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003;72:454-464.
24. Hundscheid RDL, Sistermans EA, Thomas CMG, Braat DD, Straatman H, Kiemeney LAL, Oostra BA, Smits AP. Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. Am J Hum Genet 2000;66:413-418.
25. Murray A, Ennis S, Morton N. No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. Am J Hum Genet 2000;67:253-254.
26. Vianna-Morgante AM, Costa SS. Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X. Am J Hum Genet 2000;67:254-255.
27. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000 Fall;97:189-194. Review.
28. Conway GS, Payne NN, Webb J, Murray A, Jacobs PA. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 1998;13:1184-1187.
29. Corrigan EC, Raygada MJ, Vanderhoof VH, Nelson LM. A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome. Fertil Steril 2005;84:1508.
30. Conway GS. Premature ovarian failure and FMR1 gene mutations: an update. Ann Endocrinol (Paris) 2010;71:215-217.
31. Menon V, Edwards RL, Butt WR, Bluck M, Lynch SS. Review of 59 patients with hypergonadotrophic amenor-rhoea. Br J Obstet Gynaecol 1984;91:63-66.
32. Holland CM. 47, XXX in an adolescent with premature ovarian failure and autoimmune disease. J Pediatr Adolesc Gynecol 2001;14:77-80.
33. Rebar RW. Hypergonadotropic amenorrhea and premature ovarian failure: a review. J Reprod Med 1982;27: 179-186.
34. Itu M, Neelam T, Ammini AC, Kucheria K. Primary amenorrhoea in a triple X female. Aust N Z J Obstet Gynaecol 1990;30:386-388.
35. Wu RC, Kuo PL, Lin SJ, Liu CH, Tzeng CC. X chromosome mosaicism in patients with recurrent abortion or premature ovarian failure. J Formos Med Assoc 1993;92: 953-956.
36. Goswami R, Goswami D, Kabra M, Gupta N, Dubey S, Dadhwal V. Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. Fertil Steril 2003;80:1052-1054.
37. Rooman RP, Van Driessche K, Du Caju MV. Growth and ovarian function in girls with 48, XXXX karyotype-patient report and review of the literature. J Pediatr Endocrinol Metab 2002;15:1051-1055. Review.
38. Wu MH, Tzeng CC, Kuo PL. Dicentric isochromosome X with premature ovarian failure: report of two cases. J Formos Med Assoc 1993;92:848-850.
39. Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, Veitia RA, Saad A, Elghezal H. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients. Clin Genet, in press.
40. Dube JL, Wang P, Elvin J, Lyons KM, Celeste AJ, Matzuk MM. The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. Mol Endocrinol 1998;12:1809-1817.
41. Galloway SM, McNatty KP, Cambridge LM, Laitinen MP, Juengel JL, Jokiranta TS, McLaren RJ, Luiro K, Dodds KG, Montgomery GW, et al. Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertililty in a dosage-sensitive manner. Nat Genet 2000;25:279-283.
42. Dixit H, Rao LK, Padmalatha VV, Kanakavalli M, Deena-dayal M, Gupta N, Chakrabarty B, Singh L. Missense mutations in the BMP15 gene are associated with ovarian failure. Hum Genet 2006;119:408-415.
43. Moore RK, Shimasaki S. Molecular biology and physiological role of the oocyte factor, BMP-15. Mol Cell Endocrinol 2005;234:67-73. Review.
44. Di Pasquale E, Beck-Peccoz P, Persani L. Hypergonado-tropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 2004;75:106-111.
45. Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, Einaudi S, Radetti G, Russo G, Sacco M, et al. Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab 2006;91:1976-1979.
46. Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R, et al. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol 2006;154:739-744.
47. Tiotiu D, Alvaro Mercadal B, Imbert R, Verbist J, Demeestere I, De Leener A, Englert Y, Vassart G, Costagliola S, Delbaere A. Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. Hum Reprod 2010;25:1581-1587. Epub 2010 Apr 3.
48. Laml T, Preyer O, Umek W, Hengstschlager M, Hanzal H. Genetic disorders in premature ovarian failure. Hum Reprod Update 2002;8:483-491.
49. Forges T, Monnier-Barbarino P, Leheup B, Jouvet P. Pathophysiology of impaired ovarian function in galactosae-mia. Hum Reprod Update 2006;12:573-584.
50. Menezo YJ, Lescaille M, Nicollet B, Servy EJ. Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report. J Assist Reprod Genet 2004;21:89-90.
51. Uhlenhau NH, Treier M. Foxl2 function in ovarian development. Mol Genet Metab 2006;88:225-234.
52. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S. The putative forkhead transcription factor FOXL2 is mutated in blephar-ophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 2001;27:159-166.
53. De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet 2001;10:1591-1600.
54. De Baere E, Fellous M, Veitia RA. The transcription factor FOXL2 in ovarian function and dysfunction. Folia Histo-chem Cytobiol 2009;47:S43-S49.
55. Aldred MA. Genetics of pseudohypoparathyroidism types Ia and Ic. J Pediatr Endocrinol Metab 2006;19 (Suppl 2):635-640.
56. Chanson P, Salenave S, Young J. Ovarian dysfunction by activating mutation of GS a: McCune-Albright syndrome as a model. Ann Endocrinol (Paris) 2010;71:210-213.
57. Namnoum AB, Merriam GR, Moses AM, Levine MA. Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 1998;83:824-829.
58. De Sanctis C, Lala R, Matarazzo P, Andreo M, de Sanctis L. Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. J Pediatr Endocri-nol Metab 2003;16 (Suppl 2):293-296. Review.
59. Dierich A, Sairam MR, Monaco L, Fimia GM, Gansmuller A, LeMeur M, Sassone-Corsi P. Impairing follicle stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance. Proc Natl Acad Sci USA 1998;95: 13612-13617.
60. Vegetti W, Alagna F. FSH and folliculogenesis: from physiology to ovarian stimulation. Reprod Biomed Online 2006;12:684-694. Review.
61. Aittomaki K, Dieguez Lucena J, Pakarinen P, Sistoneen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Reyes Engel A, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995;82: 959-968.
62. Themmen APN, Huhtaniemi I. Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocrine Rev 2000;21:551-583.
63. Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhta-niemi I, Forrest S, Aittomaki K. A novel mutation in the FSH Receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab 2002;87: 1151-1155.
64. Meduri G, Touraine P, Beau I, Lahuna O, Desroches A, Vacher-Lavenu MC, Kuttenn F, Misrahi M. Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. J Clin Endocrinol Metab 2003;88:3491-3498.
65. Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR, et al. New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol Endocrinol 1999;13:1844-1854.
66. Layman LC, Made S, Cohen DP, Jin M, Xie J. The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil Steril 1998;69:300-302.
67. Conway G, Conway E, Walker C, Hoppner W, Gromoll J, Simoni M. Mutation screening and isoform prevalence of the follicle-stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome. Clin. Endocrinol 1999;51: 97-99.
68. Vilodre LC, Kohek MB, Spritzer PM. Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype. J Endocrinol Invest 2008;31:552-557.
69. Arnhold IJ, Latronico AC, Batista MC, Carvalho FM, Chrousos GP, Mendonca BB. Ovarian resistance to luteiniz-ing hormone: a novel cause of amenorrhea and infertility. Fertil Steril 1997;67:394-397.
70. Takahashi K, Karino K, Kanasaki H, Kurioka H, Ozaki T, Yonehara T, Miyazaki K. Influence of missense mutation and silent mutation of LHbeta-subunit gene in Japanese patients with ovulatory disorders. Eur J Hum Genet 2003; 11:402-408.
71. Takahashi K, Ozaki T, Kanasaki H, Miyazaki K. Successful pregnancy in a woman with ovarian failure associated with mutation in the b-subunit of luteinizing hormone. Horm Res 2001;55:258-263.
72. Takahashi K, Kurioka H, Kanasaki H, Okada M, Ozaki T, Miyazaki K. A case of a pregnant woman with luteal insufficiency and a mutation in the beta-subunit of luteinizing hormone. Int J Fertil Womens Med 2000;45:327-334.
73. Lamsal M, Pokhrel S, Mahato RV, Baral N, Upreti D, Sridhar MG. LH/FSH ratio: a better marker of secondary amenorrhea in patients from eastern Nepal. Nepal Med Coll J 2007;9:147-153.
74. MacNaughton J, Banah M, McCloud P, Hee J, Burger H. Age related changes in follicle stimulating hormone, luteiniz-ing hormone, oestradiol and immunoreactive inhibin in women of reproductive age. Clin Endocrinol (Oxf) 1992;36: 339-345.
75. Pampfer S, Thomas K. Clinical value of inhibin in women. J Gynecol Obstet Biol Reprod (Paris) 1989;18:279-287. Review.
76. Shelling AN, Burton KA, Chand AL, van Ee CC, France JT, Farquhar CM, Milsom SR, Love DR, Gersak K, Aittomaki K, et al. Inhibin: a candidate gene for premature ovarian failure. Hum Reprod 2000;15:2644-2649.
77. Marozzi A, Porta C, Vegetti W, Crosignani PG, Tibiletti MG, Dalpra L, Ginelli E. Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure. Hum Reprod 2002;17:1741-1745.
78. Dixit H, Deendayal M, Singh L. Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure. Hum Reprod 2004;19:1760-1764.
79. Jeong HJ, Cho SW, Kim HA, Lee SH, Cho JH, Choi DH, Kwon H, Cha WT, Han JE, Cha KY. G769A variation of inhibin a-gene in korean women with premature ovarian failure. Yonsei Med J 2004;45:479-482.
80. Sundblad V, Chiauzzi VA, Andreone L, Campo S, Charreau EH, Dain L. Controversial role of inhibin a-subunit gene in the aetiology of premature ovarian failure. Hum Reprod 2006;21:1154-1160.
81. Chand AL, Harrison CA, Shelling AN. Inhibin and premature ovarian failure. Hum Reprod Update 2010;16:39-50.
82. Boder E. Ataxia-telangiectasia: some historic, clinical and pathologic observations. Birth Defects Orig Artic Ser 1975; 11:255-270.
83. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-1753.
84. Lavin MF, Concannon P, Gatti RA. Eighth international workshop on ataxia-telangiectasia (ATW8). Cancer Res 1999;59:3845-3849.
85. Shiloh Y. ATM (ataxia telangiectasia mutated): expanding roles in the DNA damage response and cellular homeostasis. Biochem Soc 2001;29:661-666.
86. Meyn MS. Ataxia-telangiectasia and cellular response to DNA damage. Cancer Res 1995;55:5991-6000.
87. Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley JN, Ried T, Tagle D, et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 1996;86:159-171.
88. Xu Y, Ashley T, Brainerd EE, Bronson RT, Meyn MS, Baltimore D. Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev 1996; 10:2411-2422.
89. Mansouri MR, Schuster J, Badhai J, Stattin E-L, Lösel R, Wehling M, Carlsson B, Hovatta O, Karlström PO, Golovleva I, et al. Alterations in the expression, structure and function of progesterone receptor membrane compo-nent-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet 2008;17:3776-3783.
90. Reimand K, Peterson P, Hyöty H, Uibo R, Cooke I, Weetman AP, Krohn KJ. 3b-Hydroxysteroid dehydrogenase autoantibodies are rare in premature ovarian failure. J Clin Endocrinol Metab 2000;85:2324-2326.
91. Qin Y, Zhao H, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A. Analysis of LHX8 mutation in premature ovarian failure. Fertil Steril 2008;89:1012-1014.
92. Dixit H, Rao KL, Padmalatha VV, Kanakavalli M, Deena-dayal M, Gupta N, Chakrabarty BN, Singh L. Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure. Hum Reprod 2006;21:2041-2046.
93. Ni F, Wang J, Cao Y, Ma X, Zhou S, Wang B. GPR3 may not be a potential candidate gene for premature ovarian failure. Reprod Biomed Online 2010;20:53-55.
94. Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet 2008;82:1342-1348.
95. Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiff-mann R, Boespflug-Tanguy O. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003;72:1544-1550.
96. Tung JY, Rosen MP, Nelson LM, Turek PJ, Witte JS, Cramer DW, Cedars MI, Reijo-Pera RA. Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men. Reprod Biol Endocrinol 2006;4:40.
97. Mandon-Pépin B, Touraine P, Kuttenn F, Derbois C, Rouxel A, Matsuda F, Nicolas A, Cotinot C, Fellous M. Genetic investigation of four meiotic genes in women with premature ovarian failure. Eur J Endocrinol 2008;158:107-115.
98. Watkins WJ, Umbers AJ, Woad KJ, Harris SE, Winship IM, Gersak K, Shelling AN. Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure. Fertil Steril 2006;86:1518-1521.
99. Yang JJ, Cho LY, Lim YJ, Ko KP, Lee KS, Kim H, Yim SV, Chang SH, Park SK. Estrogen receptor-1 genetic polymorphisms for the risk of premature ovarian failure and early menopause. J Womens Health (Larchmt) 2010;19:297-304.
100. Qin Y, Shi Y, Zhao Y, Carson SA, Simpson JL, Chen ZJ. Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure. Fertil Steril 2009;91 (4 Suppl):1507-1509.
101. Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, et al. Dominant inheritance of premature ovarian failure associated with mutant mitochon-drial DNA polymerase gamma. Hum Reprod 2006;21:2467-2473.
102. Laissue P, Christin-Maitre S, Bouchard P, Fellous M, Veitia RA. Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure. Clin Endocrinol (Oxf) 2007;66:900.
103. Qin Y, Zhao H, Kovanci E, Simpson JL, Chen ZJ, Rajkovic A. Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure. Fertil Steril 2007;88:1465-1467.
104. Takahashi K, Ozaki T, Okada M, Kurioka H, Kanasaki H, Miyazaki K. Increased prevalence of luteinizing hormone b-subunit variant in patients with premature ovarian failure. Fertil Steril 1999;71:96-101.
105. Vujovic S. Aetiology of premature ovarian failure. Menopause Int 2009;15:72-75.
106. Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalprà L, et al. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum Reprod 2004; 19:2759-2766.
107. Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet 2006;79:113-119.
108. Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet 1998;62:533-541.
109. Giacomozzi C, Gullotta F, Federico G, Colapietro I, Nardone AM, Cianfarani S. Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X, t(X;15)(q24;q26.3). Am J Med Genet A 2010;152:1305-1309.
110. Nilsson E, Rogers N, Skinner MK. Actions of anti-Mullerian hormone on the ovarian transcriptome to inhibit primordial to primary follicle transition. Reproduction 2007;134:209-221.
111. Vegetti W, Grazia Tibiletti M, Testa G, de Lauretis Yankowski, Alagna F, Castoldi E, Taborelli M, Motta T, Bolis PF, Dalpra L, et al. Inheritance in idiopathic premature ovarian failure: analysis of 71 cases. Hum Reprod 1998; 13:1796-1800.
112. McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ. Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. J Genet Couns 2005;14: 249-270.