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Chromosomal abnormalities in women with Premature Ovarian Failure

Vol. 8, Issue 2, / July-September 2007
(pages 142-148)

Farkhondeh Pouresmaeili Corresponding Author
- Department of Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Masoumeh Fallahian
- Gyn. & Obs. Ward, Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Fereydoun Azizi
- Endocrine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Eznollah Azargashb
- Social Medicine Department, Faculty of Medicine, Shahid Beheshti Medical Sciences University, Tehran, Iran
Nahid Arian
- Department of Basic Sciences, Payam-e-Nour University, Tehran, Iran
Ali Shirafkan
- Department of Pediatrics, Massih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Batool Mousavi
- Department of Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Received: 7/1/2007 Accepted: 7/1/2007 - Publisher : Avicenna Research Institute

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Abstract

Introduction: Premature ovarian failure (POF) or premature menopause is one of the stressful problems in women younger than 40, which may cause numerous early or late psychological and physical complications. Failure of germ cell development is associated with complete ovarian failure, while their decreased number is more likely associated with partial ovarian failure, which leads to secondary amenorrhea. Literature review shows almost no study has been done on chromosomal factors involved in POF in Iran. The purpose of this study was to study chromo-somal abnormalities in women with premature ovarian failure referred to the Fertility Health Research Center at Taleghani Hospital. Materials & Methods: Thirty-four patients experiencing menopause before the age of 40 and resultant infertility, attended the gynecology and obstetrics ward of Taleghani Hospital of Shahid Beheshti University of Medical Sciences, from the spring of 2005 to the summer of 2006, and underwent physical exam, sonography and hormonal tests (FSH, LH and PRL). The FSH level of the cases was ≥40 IU/lit. Then, the patients were referred to a genetic counselor for undergoing cytogenetic tests and counseling. Results: Most of the cases (81.8%) were younger than 40 years of age and 18.2% were 40 or older. Definite abnormal X chromosomes − mosaic karyotypes 45, X/46, XX or 47, XXY (Klinefelter’s syndrome) and mosaic 46, XX or 47, XXX − were diagnosed in 17.6% of the patients (6 cases) with a mean age of 32.1±7.6. Conclusion: Although, there were no significant correlations between POF and chromosomal abnormalities, the results from the chromosomal analysis in this study and in a limited number of cases who had been affected by early menopause due to premature ovarian failure, it is suggested that chromosomal studies be considered as one of the first steps to understand the reasons for amenorrhea. The information obtained from cytogenic tests such as chromosomal analysis could be useful for patient management, genetic counseling, and future family planning.


Keywords: Premature ovarian failure, Secondary amenorrhea, Chromosomal anomalies, Karyotype, Mosaic, Mutation


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References

  1. Goswami D, Conway GS. Premature ovarian failure. Horm Res. 2007;68(4):196-202.   [PubMed]
  2. Beck-Peccoz P, Persani L, LaFranchi S. Safety of medi-cations and hormones used. J Clin Endocrinol Metab. 2000;85(4):1545-9.
  3. Speroff L, Fritz MA. Dysfunctional uterine bleeding in clinical gynecologic endocrinology and infertility. 7th Edition. Philadelphia: Lippincott Williams and Wilkins 2005;pp:547-571.
  4. Hundscheid RD, Sistermans EA, Thomas CM, Braat DD, Straatman H, Kiemeney LA, et al. Imprinting effect in premature ovarian failure confined to pater-nally inherited fragile X premutations. Am J Hum Genet. 2000;66(2):413-8.   [PubMed]
  5. Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Raj-kovic A. NOBOX homeobx mutation causes premature ovarian failure. Am J Hum Genet. 2007;81(3):576-81.   [PubMed]
  6. Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med. 1987;317(3):125-31.   [PubMed]
  7. Altuntas CZ, Johnson JM, Tuohy VK. Autoimmune targeted disruption of the pituitary-Ovarian axis causes premature ovarian failure. J Immunol. 2006;177(3): 1988-96.   [PubMed]
  8. Vegetti W, Marozzi A, Manfredini E, Testa G, Alagna F, Nicolosi A, et al. Premature ovarian failure. Mol Cell Endocrinol. 2000;161(1-2):53-7.   [PubMed]
  9. Rabar RW, Cedors MI. Hypergonadotrophic forms of amenorhea in young women. Reprd Endocrinol. 1992; 21:173-91.   [PubMed]
  10. Mattison DR, Evans MI, Schwimmer WB, White BJ, Jensen B, Schulman JD. Familial premature ovarian failure. Am J Hum Genet. 1984;36:1341-8.   [PubMed]
  11. Tharapel AT, Anderson KP, Simpson JL, Martens PR, Wilroy RS Jr, Llerena JC Jr, et al. Deletion (X) (q26.1-->q28) in a proband and her mother: molecular charac-terization and phenotypic-karyotypic deductions. Am J Hum Genet. 1993;52(3):463-71.   [PubMed]
  12. Rychlik DF. Regarding recall bias in the association between idiopathic premature ovarian failure and fragile X permutation. Hum Reprod. 2000;15(8):1874-5.   [PubMed]
  13. Uhlenhaut NH, Treier M. Foxl2 function in ovarian development. Mol Genet Metab. 2006;88(3)225-34.   [PubMed]
  14. Rooney DE, Czepulkowski BH, Human cytogenetics: a practical approach, Oxford; New York: IRL Press. 1992.
  15. Lewis R. Human Genetics. 5 th Edition. McGraw Hill. 2005;112-3.
  16. Devi A, Benn PA. X-chromosome abnormalities in women with premature ovarian failure. J Reprod Med. 1999;44(4):321-4.   [PubMed]
  17. Bretherick KL, Metzger DL, Chanoine JP, Panagio-topoulos C, Watson SK, et al. Skewed X-chromosome inactivation is associated with primary but not second-ary ovarian failure. Am J Med Genet. 2007;143(9): 945-51.   [PubMed]
  18. Harris SE, Chand AL, Winship IM, Gersak K, Aitto-maki K, Shelling AN. Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod. 2002;8:(8):729-33.   [PubMed]
  19. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986;67 (4):604-6.   [PubMed]
  20. Conway GS, Kaltsas G, Patel A, Davies MC, Jacobs HS. Characterization of idiopathic premature ovarian failure. Fertil Steril. 1996;65(2):337-41.   [PubMed]
  21. Cramer DW, Xu H, Harlow BL. Family history as a predictor of early menopause. Fertil Steril. 1995;64: 740-745.   [PubMed]
  22. Torgerson DJ, Thomas RE, Reid DM. Mothers and daughters menopausal ages: is there a link?. Eur J bstet Gynecol Reprod Biol. 1997;74:63-66.   [PubMed]

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