Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women - PubMed (original) (raw)

Clinical Trial

Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women

A Murray et al. Hum Reprod. 1999 May.

Abstract

It is now recognized that female carriers of fragile X premutations are at increased risk of premature ovarian failure. We have studied 51 premenopausal women from fragile X families, to determine whether premutation carriers have variations in the hormonal markers of menopause, compared to full mutations and controls. We found a significant increase in serum follicle stimulating hormone in premutation carriers, suggesting that as a group they will enter menopause before full mutation carriers and unaffected controls. These results have important implications for fertility in these women.

PubMed Disclaimer

Figures

Figure 1

Follicle stimulating hormone (FSH) concentrations plotted against age.

Similar articles

• Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives.
  Hundscheid RD, Braat DD, Kiemeney LA, Smits AP, Thomas CM. Hundscheid RD, et al. Hum Reprod. 2001 Mar;16(3):457-62. doi: 10.1093/humrep/16.3.457. Hum Reprod. 2001. PMID: 11228211
• Premature ovarian failure and fragile X premutation: a study on 45 women.
  Bussani C, Papi L, Sestini R, Baldinotti F, Bucciantini S, Bruni V, Scarselli G. Bussani C, et al. Eur J Obstet Gynecol Reprod Biol. 2004 Feb 10;112(2):189-91. doi: 10.1016/j.ejogrb.2003.06.003. Eur J Obstet Gynecol Reprod Biol. 2004. PMID: 14746957
• Fragile X premutation screening in women with premature ovarian failure.
  Conway GS, Payne NN, Webb J, Murray A, Jacobs PA. Conway GS, et al. Hum Reprod. 1998 May;13(5):1184-7. doi: 10.1093/humrep/13.5.1184. Hum Reprod. 1998. PMID: 9647544
• Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.
  Hoyos LR, Thakur M. Hoyos LR, et al. J Assist Reprod Genet. 2017 Mar;34(3):315-323. doi: 10.1007/s10815-016-0854-6. Epub 2016 Dec 19. J Assist Reprod Genet. 2017. PMID: 27995424 Free PMC article. Review.
• Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.
  Wheeler A, Raspa M, Hagerman R, Mailick M, Riley C. Wheeler A, et al. Pediatrics. 2017 Jun;139(Suppl 3):S172-S182. doi: 10.1542/peds.2016-1159D. Pediatrics. 2017. PMID: 28814538 Free PMC article. Review.

Cited by

• Does the presence of AGG interruptions within the CGG repeat tract have a protective effect on the fertility phenotype of female FMR1 premutation carriers?
  Friedman-Gohas M, Kirshenbaum M, Michaeli A, Domniz N, Elizur S, Raanani H, Orvieto R, Cohen Y. Friedman-Gohas M, et al. J Assist Reprod Genet. 2020 Apr;37(4):849-854. doi: 10.1007/s10815-020-01701-0. Epub 2020 Feb 24. J Assist Reprod Genet. 2020. PMID: 32096109 Free PMC article.
• Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.
  Fink DA, Nelson LM, Pyeritz R, Johnson J, Sherman SL, Cohen Y, Elizur SE. Fink DA, et al. Front Genet. 2018 Nov 27;9:529. doi: 10.3389/fgene.2018.00529. eCollection 2018. Front Genet. 2018. PMID: 30542367 Free PMC article. Review.
• A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes.
  Epstein MP, Hunter JE, Allen EG, Sherman SL, Lin X, Boehnke M. Epstein MP, et al. Stat Biosci. 2009 Nov;1(2):181-198. doi: 10.1007/s12561-009-9010-5. Stat Biosci. 2009. PMID: 20436936 Free PMC article.
• Reproductive and menstrual history of females with fragile X expansions.
  Murray A, Ennis S, MacSwiney F, Webb J, Morton NE. Murray A, et al. Eur J Hum Genet. 2000 Apr;8(4):247-52. doi: 10.1038/sj.ejhg.5200451. Eur J Hum Genet. 2000. PMID: 10854106 Free PMC article.
• Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers.
  Spath MA, Feuth TB, Allen EG, Smits AP, Yntema HG, van Kessel AG, Braat DD, Sherman SL, Thomas CM. Spath MA, et al. Hum Reprod. 2011 Aug;26(8):2185-91. doi: 10.1093/humrep/der146. Epub 2011 May 15. Hum Reprod. 2011. PMID: 21576079 Free PMC article.

References

1. 1. Allingham Hawkins DJ, Babul-Hirji D, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure. The International Collaborative premature ovarian failure in fragile X study. Am. J. Med. Genet. 1999 in press. - PMC - PubMed
2. 1. Blom G. Statistical Elements and Transformed Beta Variables. Wiley; New York: 1958.
3. 1. Conway GS, Hettiarachchi S, Murray A, Jacobs PA. Fragile X premutations in familial premature ovarian failure. Lancet. 1995;346:309–310. - PubMed
4. 1. Conway GS, Payne NN, Webb J, et al. Fragile X premutation screening in women with premature ovarian failure. Hum. Reprod. 1998;13:1184–1187. - PubMed
5. 1. MacNaughton J, Banah M, McCloud P, et al. Age related changes in follicle stimulating hormone, luteinizing hormone, oestradiol and immunoreactive inhibin in women of reproductive age. Clin. Endocrinol. 1992;36:339–345. - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Europe PubMed Central
  • PubMed Central
  • Silverchair Information Systems

• Medical

  • MedlinePlus Health Information