Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)

Menopause

Volumn 23, Issue 9, 2016, Pages 993-999

  Hipp, Heather S ^a   Charen, Krista H ^a   Spencer, Jessica B ^a   Allen, Emily G ^a   Sherman, Stephanie L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

FMR1; FXPOI; Hormone therapy; Infertility; Primary ovarian insufficiency

Indexed keywords

CYTOSINE; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE; FMR1 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; BLOOD; BONE DENSITY; CHEEK; COUNSELING; FEMALE; FEMALE INFERTILITY; FRAGILE X PRIMARY OVARIAN INSUFFICIENCY; GYNECOLOGIC CARE; HORMONAL THERAPY; HORMONE SUBSTITUTION; HUMAN; INFERTILITY THERAPY; MAJOR CLINICAL STUDY; OSTEOPOROSIS; OVARY INSUFFICIENCY; PREGNANCY OUTCOME; REPRODUCTION; SALIVA; SEMI STRUCTURED INTERVIEW; COMPLICATION; DELAYED DIAGNOSIS; FERTILITY; GENETICS; MUTATION; ONSET AGE; PREGNANCY; PREMATURE OVARIAN FAILURE; STATISTICS AND NUMERICAL DATA;

ADULT; AGE OF ONSET; DELAYED DIAGNOSIS; FEMALE; FERTILITY; FRAGILE X MENTAL RETARDATION PROTEIN; HORMONE REPLACEMENT THERAPY; HUMANS; INFERTILITY, FEMALE; MUTATION; PREGNANCY; PREGNANCY OUTCOME; PRIMARY OVARIAN INSUFFICIENCY; REPRODUCTION;

EID: 84983734617     PISSN: 10723714     EISSN: 15300374     Source Type: Journal    
DOI: 10.1097/GME.0000000000000658     Document Type: Article

References (57)

1. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol 1986;67:604-606.
2. Qin Y, Jiao X, Simpson JL, Chen ZJ. Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update 2015;21:787-808.
3. Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001;10:1449-1454.
4. Allen EG, He W, Yadav-Shah M, Sherman SL. A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet 2004;114:439-447.
5. Sutcliffe JS, Nelson DL, Zhang F, et al. DNAmethylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1992;1:397-400.
6. Pieretti M, Zhang FP, Fu YH, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991;66:817-822.
7. Maenner MJ, Baker MW, Broman KW, et al. FMR1 CGG expansions: prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet 2013;162B:466-473.
8. Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet Gynecol 2008;111:596-601.
9. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000;97:189-194.
10. Spath MA, Feuth TB, Allen EG, et al. Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers. Hum Reprod 2011;26:2185-2191.
11. Rohr J, Allen EG, Charen K, et al. Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study. Hum Reprod 2008;23:1220-1225.
12. Welt CK, Smith PC, Taylor AE. Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab 2004;89:4569-4574.
13. Wheeler AC, Raspa M, Green A, et al. Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency. Front Genet 2014;5:300.
14. Bibi G, Malcov M, Yuval Y, et al. The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis. Fertil Steril 2010;94:869-874.
15. Tsafrir A, Altarescu G, Margalioth E, et al. PGD for fragile X syndrome: ovarian function is the main determinant of success. Hum Reprod 2010;25:2629-2636.
16. Allen EG, Sullivan AK, Marcus M, et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod 2007;22:2142-2152.
17. Mondul AM, Rodriguez C, Jacobs EJ, Calle EE. Age at natural menopause and cause-specific mortality. Am J Epidemiol 2005;162:1089-1097.
18. Jacobsen BK, Knutsen SF, Fraser GE. Age at natural menopause and total mortality and mortality from ischemic heart disease: the Adventist Health Study. J Clin Epidemiol 1999;52:303-307.
19. Ryan J, Scali J, Carriere I, et al. Impact of a premature menopause on cognitive function in later life. BJOG 2014;121:1729-1739.
20. Gallagher JC. Effect of early menopause on bone mineral density and fractures. Menopause 2007;14:567-571.
21. Anasti JN, Kalantaridou SN, Kimzey LM, Defensor RA, Nelson LM. Bone loss in young women with karyotypically normal spontaneous premature ovarian failure. Obstet Gynecol 1998;91:12-15.
22. Lindh-Astrand L, Hoffmann M, Jarvstrat L, Fredriksson M, Hammar M, Spetz Holm AC. Hormone therapy might be underutilized in women with early menopause. Hum Reprod 2015;30:848-852.
23. Mittal M, Kreatsa M, Narvekar N, Savvas M, Hamoda H. Fertility desires, choice of hormone replacement and the effect of length of time since menopause on bone density in women with premature ovarian insufficiency: a review of 223 consecutive new referrals to a tertiary centre. Post Reprod Health 2014;20:104-111.
24. Alzubaidi NH, Chapin HL, Vanderhoof VH, Calis KA, Nelson LM. Meeting the needs of young women with secondary amenorrhea and spontaneous premature ovarian failure. Obstet Gynecol 2002;99:720-725.
25. Groff AA, Covington SN, Halverson LR, et al. Assessing the emotional needs of women with spontaneous premature ovarian failure. Fertil Steril 2005;83:1734-1741.
26. Bureau USC. United States Census. Available at: http://www.census.gov. Accessed July 9, 2015.
27. Gatta LA, Jiang X, Schnatz PF. Hormone therapy in women with primary ovarian insufficiency or early menopause. Menopause 2015;22:923-925.
28. The North American Menopause Society. The 2012 hormone therapy position statement of: The North American Menopause Society. Menopause 2012;19:257-271.
29. Meadows KL, Pettay D, Newman J, Hersey J, Ashley AE, Sherman SL. Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am J Med Genet 1996;64:428-433.
30. Brown WT, Houck GE Jr, Jeziorowska A, et al. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 1993;270:1569-1575.
31. Rossouw JE, Anderson GL, Prentice RL, et al. Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results From the Women's Health Initiative randomized controlled trial. JAMA 2002;288:321-333.
32. Ennis S, Ward D, Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet 2006;14:253-255.
33. Lu C, Lin L, Tan H, et al. Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet 2012;21:5039-5047.
34. Hoffman GE, Le WW, Entezam A, et al. Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency. J Histochem Cytochem 2012;60:439-456.
35. Sherman SL, Curnow EC, Easley CA, et al. Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). J Neurodev Disord 2014;6:26.
36. Louis O, Devroey P, Kalender W, Osteaux M. Bone loss in young hypoestrogenic women due to primary ovarian failure: spinal quantitative computed tomography. Fertil Steril 1989;52:227-231.
37. Kalantaridou SN, Naka KK, Papanikolaou E, et al. Impaired endothelial function in young women with premature ovarian failure: normalization with hormone therapy. J Clin Endocrinol Metab 2004;89:3907-3913.
38. Ohta H, Sugimoto I, Masuda A, et al. Decreased bone mineral density associated with early menopause progresses for at least ten years: crosssectional comparisons between early and normal menopausal women. Bone 1996;18:227-231.
39. Uygur D, Sengul O, Bayar D, Erdinc S, Batioglu S, Mollamahmutoglu L. Bone loss in young women with premature ovarian failure. Arch Gynecol Obstet 2005;273:17-19.
40. Kharazmi E, Dossus L, Rohrmann S, Kaaks R. Pregnancy loss and risk of cardiovascular disease: a prospective population-based cohort study (EPIC-Heidelberg). Heart 2011;97:49-54.
41. Ananth CV, Keyes KM, Wapner RJ. Pre-eclampsia rates in the United States, 1980-2010: age-period-cohort analysis. BMJ 2013;347:f6564.
42. DeSisto CL, Kim SY, Sharma AJ. Prevalence estimates of gestational diabetes mellitus in the United States, Pregnancy Risk Assessment Monitoring System (PRAMS), 2007-2010. Prev Chronic Dis 2014;11:E104.
43. Martin JA, Hamilton BE, Osterman MJ, Curtin SC, Matthews TJ. Births: final data for 2013. Natl Vital Stat Rep 2015;64:1-65.
44. Kallinen J, Korhonen K, Kortelainen S, Heinonen S, Ryynanen M. Pregnancy outcome in carriers of fragile X. BJOG 2000;107:969-972.
45. Chandra A, Copen CE, Stephen EH. Infertility and impaired fecundity in the United States, 1982-2010: data from the National Survey of Family Growth. Natl Health Stat Report 2013; (67): 1-18.
46. Practice Committees of American Society for Reproductive Medicine; Society for Assisted Reproductive Technology. Mature oocyte cryopreservation: a guideline. Fertil Steril 2013;99:37-43.
47. van Kasteren YM, Schoemaker J. Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy. Hum Reprod Update 1999;5:483-492.
48. Conway GS, Kaltsas G, Patel A, Davies MC, Jacobs HS. Characterization of idiopathic premature ovarian failure. Fertil Steril 1996;65:337-341.
49. Taylor AE, Adams JM, Mulder JE, Martin KA, Sluss PM, Crowley WF Jr. A randomized, controlled trial of estradiol replacement therapy in women with hypergonadotropic amenorrhea. J Clin Endocrinol Metab 1996;81:3615-3621.
50. Bailey DB Jr, Skinner D, Sparkman KL. Discovering fragile X syndrome: family experiences and perceptions. Pediatrics 2003;111:407-416.
51. McConkie-Rosell A, Spiridigliozzi GA, Iafolla T, Tarleton J, Lachiewicz AM. Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers. Am J Med Genet 1997;68:62-69.
52. Raspberry KA, Skinner D. Negotiating desires and options: how mothers who carry the fragile X gene experience reproductive decisions. Soc Sci Med 2011;72:992-998.
53. Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008;146A:1009-1016.
54. Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, et al. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet 2009;17:1359-1362.
55. Hunter JE, Rohr JK, Sherman SL. Co-occurring diagnoses among FMR1 premutation allele carriers. Clin Genet 2010;77:374-381.
56. Mailick MR, Hong J, Greenberg J, Smith L, Sherman S. Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions. Am J Med Genet B Neuropsychiatr Genet 2014;165B:705-711.
57. Visootsak J, Charen K, Rohr J, Allen E, Sherman S. Diagnosis of fragile X syndrome: a qualitative study of African American families. J Genet Couns 2012;21:845-853.