Reproductive health of adolescent girls who carry the FMR1 premutation: Expected phenotype based on current knowledge of fragile X-associated primary ovarian insufficiency

Annals of the New York Academy of Sciences

Volumn 1135, Issue , 2008, Pages 99-111

  De Caro, John J ^a   Dominguez, Celia ^a   Sherman, Stephanie L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Adolescence; FMR1; Fragile X syndrome; FRAXA; Premature ovarian failure; Premature ovarian insufficiency, primary ovarian insufficiency; Reproductive health

Indexed keywords

BIOCHEMICAL MARKER; ESTRADIOL; FOLLITROPIN; FRAGILE X MENTAL RETARDATION PROTEIN; INHIBIN A; INHIBIN B; LUTEINIZING HORMONE; MUELLERIAN INHIBITING FACTOR; PROGESTERONE;

ADOLESCENT; ALLELE; ANEUPLOIDY; CARDIOVASCULAR RISK; CONFERENCE PAPER; DISEASE ASSOCIATION; DIZYGOTIC TWINS; ESTROGEN DEFICIENCY; FEMALE; FERTILIZATION IN VITRO; FOLLITROPIN BLOOD LEVEL; FRACTURE; FRAGILE X SYNDROME; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; HERITABILITY; HETEROZYGOSITY; HORMONE DETERMINATION; HUMAN; LUTEINIZING HORMONE BLOOD LEVEL; MENSTRUAL CYCLE; MENSTRUAL IRREGULARITY; OSTEOPOROSIS; OVARY DEVELOPMENT; OVARY INSUFFICIENCY; PREMATURE OVARIAN FAILURE; PROTEIN EXPRESSION; PSYCHOLOGICAL WELL BEING; REPRODUCTIVE HEALTH; RISK FACTOR; SENESCENCE;

EID: 45549108021     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1196/annals.1429.029     Document Type: Conference Paper

References (94)

1. Ashley, C.T., Jr. et al. 1993. FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262 : 563 566.
2. Crawford, D.C., J.M. Acuna & S.L. Sherman. 2001. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet. Med. 3 : 359 371.
3. Sherman, S., B.A. Pletcher & D.A. Driscoll. 2005. Fragile X syndrome: diagnostic and carrier testing. Genet. Med. 7 : 584 587.
4. Nolin, S.L. et al. 1996. Familial transmission of the FMR1 CGG repeat. Am. J. Hum. Genet. 59 : 1252 1261.
5. Nolin, S.L. et al. 2003. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am. J. Hum. Genet. 72 : 454 464.
6. Cronister, A. et al. 1991. Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am. J. Med. Genet. 38 : 269 274.
7. Fryns, J.P. 1986. The female and the fragile X: a study of 144 obligate female carriers. Am. J. Med. Genet. 23 : 157 169.
8. Schwartz, C.E. et al. 1994. Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am. J. Med. Genet. 51 : 400 402.
9. Murray, A. et al. 2000. Reproductive and menstrual history of females with fragile X expansions. Eur. J. Hum. Genet. 8 : 247 252.
10. Sullivan, A.K. et al. 2005. Association of FMR1 repeat size with ovarian dysfunction. Hum. Reprod. 20 : 402 412.
11. Allen, E.G. et al. 2007. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum. Reprod. 22 : 2142 2152.
12. Hundscheid, R.D. et al. 2001. Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives. Hum. Reprod. 16 : 457 462.
13. Murray, A. et al. 1999. Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women. Hum. Reprod. 14 : 1217 1218.
14. Welt, C.K., P.C. Smith & A.E. Taylor. 2004. Evidence of early ovarian aging in fragile X premutation carriers. J. Clin. Endocrinol. Metab. 89 : 4569 4574.
15. Albright, F., P.H. Smith & R. Fraser. 1942. A syndrome characterized by primary ovarian insufficiency and decreased stature. Am. J. Med. Sci. 204 : 625 648.
16. Welt, C.K. 2007. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin. Endocrinol. (Oxf.) 68 : 499 509.
17. Abrams, L. 2007. From POF to POI: evolution of a term. The National Fragile X Foundation Quarterly 29 : 22.
18. Allingham-Hawkins, D.J. et al. 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 : 322 325.
19. Uzielli, M.L. et al. 1999. Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data. Am. J. Med. Genet. 84 : 300 303.
20. Vianna-Morgante, A.M. et al. 1999. Premature ovarian failure (POF) in Brazilian fragile X carriers. Genet. Mol. Biol. 22 : 471 474.
21. Mallolas, J. et al. 2001. Implications of the FMR1 gene in menopause: study of 147 Spanish women. Menopause 8 : 106 110.
22. Hundscheid, R.D. et al. 2003. Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure. Am. J. Med. Genet. A 117 : 6 9.
23. Machado-Ferreira Mdo, C. et al. 2004. Premature ovarian failure and FRAXA premutation: positive correlation in a Brazilian survey. Am. J. Med. Genet. A 126 : 237 2340.
24. Sherman, S.L., K. Taylor & E.G. Allen. 2007. FMR1 Premutation: a leading cause of inherited ovarian dysfunction. In Fragile Sites: New Discoveries and Changing Perspectives. I. Arrieta, O. Penagarikano & M. Télez, Eds. Nova Science Publishers. Happaugue, NY.
25. Bussani, C. et al. 2004. Premature ovarian failure and fragile X premutation: a study on 45 women. Eur. J. Obstet. Gynecol. Reprod. Biol. 112 : 189 191.
26. Marozzi, A. et al. 2000. Association between idiopathic premature ovarian failure and fragile X premutation. Hum. Reprod. 15 : 197 202.
27. Murray, A. et al. 1998. Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet. 35 : 637 640.
28. Chiazze, L., Jr. et al. 1968. The length and variability of the human menstrual cycle. JAMA 203 : 377 380.
29. Treloar, A.E. et al. 1967. Variation of the human menstrual cycle through reproductive life. Int. J. Fertil. 12 : 77 126.
30. Vollman, R.F. 1977. The menstrual cycle. Major Probl. Obstet. Gynecol. 7 : 1 193.
31. Goswami, D. & G.S. Conway. 2005. Premature ovarian failure. Hum. Reprod. Update 11 : 391 410.
32. Ennis, S., D. Ward & A. Murray. 2006. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur. J. Hum. Genet. 14 : 253 255.
33. Houmard, B.S., D.E. Battaglia & D.B. Seifer. 2001. Female Reproductive Aging. In The Physiologic Basis of Gynecology and Obstetrics. D.B. Seifer, P. Samuels & D.A. Kniss, Eds. : 174 196. Lippincott William and Wilkins. Philadelphia, PA.
34. Baker, T.G. 1963. A quantitative and cytological study of germ cells in human ovaries. Proc. R. Soc. Lond. B Biol. Sci. 158 : 417 433.
35. Block, E. 1952. Quantitative morphological investigations of the follicular system in women; variations at different ages. Acta Anat. (Basel) 14 : 108 123.
36. Richardson, S.J., V. Senikas & J.F. Nelson. 1987. Follicular depletion during the menopausal transition: evidence for accelerated loss and ultimate exhaustion. J. Clin. Endocrinol. Metab. 65 : 1231 1237.
37. Faddy, M.J. 2000. Follicle dynamics during ovarian ageing. Mol. Cell. Endocrinol. 163 : 43 48.
38. Nelson, L.M., S.N. Covington & R.W. Rebar. 2005. An update: spontaneous premature ovarian failure is not an early menopause. Fertil. Steril. 83 : 1327 1332.
39. Muasher, S.J. et al. 1988. The value of basal and/or stimulated serum gonadotropin levels in prediction of stimulation response and in vitro fertilization outcome. Fertil. Steril. 50 : 298 307.
40. Scott, R.T. et al. 1989. Follicle-stimulating hormone levels on cycle day 3 are predictive of in vitro fertilization outcome. Fertil. Steril. 51 : 651 654.
41. Toner, J.P. et al. 1991. Basal follicle-stimulating hormone level is a better predictor of in vitro fertilization performance than age. Fertil. Steril. 55 : 784 791.
42. Muttukrishna, S. & P.G. Knight. 1991. Inverse effects of activin and inhibin on the synthesis and secretion of FSH and LH by ovine pituitary cells in vitro. J. Mol. Endocrinol. 6 : 171 178.
43. Klein, N.A. et al. 1996. Decreased inhibin B secretion is associated with the monotropic FSH rise in older, ovulatory women: a study of serum and follicular fluid levels of dimeric inhibin A and B in spontaneous menstrual cycles. J. Clin. Endocrinol. Metab. 81 : 2742 2745.
44. Seifer, D.B. et al. 1999. Women with declining ovarian reserve may demonstrate a decrease in day 3 serum inhibin B before a rise in day 3 follicle-stimulating hormone. Fertil. Steril. 72 : 63 65.
45. Seifer, D.B. & F. Naftolin. 1998. Moving toward an earlier and better understanding of perimenopause. Fertil. Steril. 69 : 387 388.
46. Lockwood, G.M., S. Muttukrishna & W.L. Ledger. 1998. Inhibins and activins in human ovulation, conception and pregnancy. Hum. Reprod. Update 4 : 284 295.
47. Fawzy, M. et al. 2002. Day 5 inhibin B levels in a treatment cycle are predictive of IVF outcome. Hum. Reprod. 17 : 1535 1543.
48. Welt, C.K. et al. 1999. Female reproductive aging is marked by decreased secretion of dimeric inhibin. J. Clin. Endocrinol. Metab. 84 : 105 111.
49. de Vet, A. et al. 2002. Antimullerian hormone serum levels: a putative marker for ovarian aging. Fertil. Steril. 77 : 357 362.
50. Fanchin, R. et al. 2003. Serum anti-Mullerian hormone is more strongly related to ovarian follicular status than serum inhibin B, estradiol, FSH and LH on day 3. Hum. Reprod. 18 : 323 327.
51. van Rooij, I.A. et al. 2004. Anti-mullerian hormone is a promising predictor for the occurrence of the menopausal transition. Menopause 11 : 601 606.
52. Seifer, D.B. et al. 2002. Early follicular serum mullerian-inhibiting substance levels are associated with ovarian response during assisted reproductive technology cycles. Fertil. Steril. 77 : 468 471.
53. Tremellen, K.P. et al. 2005. Anti-mullerian hormone as a marker of ovarian reserve. Aust. N. Z. J. Obstet. Gynaecol. 45 : 20 24.
54. Hazout, A. et al. 2004. Serum antimullerian hormone/mullerian-inhibiting substance appears to be a more discriminatory marker of assisted reproductive technology outcome than follicle-stimulating hormone, inhibin B, or estradiol. Fertil. Steril. 82 : 1323 1329.
55. MacNaughton, J. et al. 1992. Age related changes in follicle stimulating hormone, luteinizing hormone, oestradiol and immunoreactive inhibin in women of reproductive age. Clin. Endocrinol. (Oxf.) 36 : 339 345.
56. Visser, J.A. et al. 2006. Anti-Mullerian hormone: a new marker for ovarian function. Reproduction 131 : 1 9.
57. Nilsson, E., N. Rogers & M.K. Skinner. 2007. Actions of anti-Mullerian hormone on the ovarian transcriptome to inhibit primordial to primary follicle transition. Reproduction 134 : 209 221.
58. Weenen, C. et al. 2004. Anti-Mullerian hormone expression pattern in the human ovary: potential implications for initial and cyclic follicle recruitment. Mol. Hum. Reprod. 10 : 77 83.
59. Burgess, B. et al. 1996. Normal age of menarche in fragile X syndrome. Am. J. Med. Genet. 64 : 376.
60. Sherman, S.L. et al. 2005. Risk factors for nondisjunction of trisomy 21. Cytogenet. Genome. Res. 111 : 273 280.
61. Lambalk, C.B., C.H. De Koning & D.D. Braat. 1998. The endocrinology of dizygotic twinning in the human. Mol. Cell. Endocrinol. 145 : 97 102.
62. Turner, G. et al. 1994. Dizygous twinning and premature menopause in fragile X syndrome. Lancet 344 : 1500.
63. Sherman, S.L., K.L. Meadows & A.E. Ashley. 1996. Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females. Am. J. Med. Genet. 64 : 256 260.
64. Vianna-Morgante, A.M. 1999. Twinning and premature ovarian failure in premutation fragile X carriers. Am. J. Med. Genet. 83 : 326.
65. de Kleijn, M.J. et al. 2002. Endogenous estrogen exposure and cardiovascular mortality risk in postmenopausal women. Am. J. Epidemiol. 155 : 339 345.
66. Kritz-Silverstein, D. & E. Barrett-Connor. 1993. Early menopause, number of reproductive years, and bone mineral density in postmenopausal women. Am. J. Public Health 83 : 983 988.
67. Jacobsen, B.K., I. Heuch & G. Kvale. 2003. Age at natural menopause and all-cause mortality: a 37-year follow-up of 19,731 Norwegian women. Am. J. Epidemiol. 157 : 923 929.
68. Bianchi, M.L. 2007. Osteoporosis in children and adolescents. Bone 41 : 486 495.
69. Bachner, D. et al. 1993. Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum. Mol. Genet. 2 : 2043 2050.
70. Rife, M. et al. 2004. Immunohistochemical FMRP studies in a full mutated female fetus. Am. J. Med. Genet. A 124 : 129 132.
71. Jin, P., R.S. Alisch & S.T. Warren. 2004. RNA and microRNAs in fragile X mental retardation. Nat. Cell Biol. 6 : 1048 1053.
72. Bione, S. et al. 2004. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum. Reprod. 19 : 2759 2766.
73. Rossetti, F. et al. 2004. A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. Eur. J. Hum. Genet. 12 : 829 834.
74. Rizzolio, F. et al. 2006. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum. Reprod. 21 : 1477 1483.
75. Hagerman, P.J. & R.J. Hagerman. 2007. Fragile X-associated tremor/ataxia syndrome-an older face of the fragile X gene. Nat. Clin. Pract. Neurol. 3 : 107 112.
76. Hergersberg, M. et al. 1995. Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice. Hum. Mol. Genet. 4 : 359 366.
77. Hinds, H.L. et al. 1993. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat. Genet. 3 : 36 43.
78. Greco, C.M. et al. 2007. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J. Urol. 177 : 1434 1437.
79. den Tonkelaar, I., E.R. te Velde & C.W. Looman. 1998. Menstrual cycle length preceding menopause in relation to age at menopause. Maturitas 29 : 115 123.
80. Miano, M.G. et al. 2007. Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report. BMC Med. Genet. 8 : 18.
81. de Bruin, J.P. et al. 2001. The role of genetic factors in age at natural menopause. Hum. Reprod. 16 : 2014 2018.
82. Murabito, J.M. et al. 2005. Heritability of age at natural menopause in the Framingham Heart Study. J. Clin. Endocrinol. Metab. 90 : 3427 3430.
83. Snieder, H., A.J. MacGregor & T.D. Spector. 1998. Genes control the cessation of a woman's reproductive life: a twin study of hysterectomy and age at menopause. J. Clin. Endocrinol. Metab. 83 : 1875 1880.
84. Treloar, S.A., K.A. Do & N.G. Martin. 1998. Genetic influences on the age at menopause. Lancet 352 : 1084 1085.
85. van Asselt, K.M. et al. 2004. Heritability of menopausal age in mothers and daughters. Fertil. Steril. 82 : 1348 1351.
86. Vink, J. & D. Boomsma. 2005. Modeling age at menopause. Fertil. Steril. 83 : 1068.
87. Cooper, G.S., D.P. Sandler & M. Bohlig. 1999. Active and passive smoking and the occurrence of natural menopause. Epidemiology 10 : 771 773.
88. McConkie-Rosell, A. et al. 2005. Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. J. Genet. Couns. 14 : 249 270.
89. Wittenberger, M.D. et al. 2007. The FMR1 premutation and reproduction. Fertil. Steril. 87 : 456 465.
90. Groff, A.A. et al. 2005. Assessing the emotional needs of women with spontaneous premature ovarian failure. Fertil. Steril. 83 : 1734 1741.
91. Carrasco, M. 2001. [Informing members of families affected by fragile X syndrome of this diagnosis]. Rev. Neurol. 33 (Suppl 1 S37 S41.
92. Corrigan, E.C. et al. 2005. A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome. Fertil. Steril. 84 : 1508.
93. Alper, M.M., E.E. Jolly & P.R. Garner. 1986. Pregnancies after premature ovarian failure. Obstet. Gynecol. 67 : 59S 62S.
94. Check, J.H., J.S. Chase & M. Spence. 1989. Pregnancy in premature ovarian failure after therapy with oral contraceptives despite resistance to previous human menopausal gonadotropin therapy. Am. J. Obstet. Gynecol. 160 : 114 115.