@2024 Afarand., IRAN
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2017;1(3):
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2017;1(3):
Cytogenetic Analysis of 13 Iranian Women with Premature Ovarian Failure
ARTICLE INFO
Article Type
Case ReportAuthors
Hadipour F. (1)Hadipour Z. (1)
Mousavi F. (2)
Bagherizadeh I. (2)
Shafaghati Y. ()
Behjati F. (*)
() “Sarem Cell Research Center (SCRC), Sarem Cell Research Center (SCRC), Medical Genetics Department, Sarem Women’s Hospital” and “Genetic Reaearch Center, University of Welfore & Rehabilitation Scienws”, Tehran, Iran
(*) “Sarem Cell Research Center (SCRC), Sarem Cell Research Center (SCRC), Medical Genetics Department, Sarem Women’s Hospital” and “Genetic Reaearch Center, University of Welfore & Rehabilitation Scienws”, Tehran, Iran
(1) Sarem Fertility & Infertility Research Center (SAFIR) and Sarem Cell Research Center (SCRC) and Medical Genetics Department, Sarem Women’s Hospital, Tehran, Iran
(2) Sarem Cell Research Center (SCRC) and Medical Genetics Department, Sarem Women’s Hospital, Tehran, Iran
Correspondence
Address: Sarem Women’s Hospital, Basij Square, Phase 3, Ekbatan Town, Tehran, Iran. Postal Code: 1396956111Phone: +98 (21) 44670888
Fax: +98 (21) 44670432
f_behjati@uswr.ac.ir
Article History
Received: March 2, 2016Accepted: June 21, 2016
ePublished: August 15, 2016
ABSTRACT
Information & Methods
Considering the clinical importance and the deep impact of Premature Ovarian Failure (POF) on the life of affected people and the important role of genetics in its development, this study was conducted to determine the frequency and type of chromosomal abnormalities in Iranian women referred to Sarem Hospital with premature ovarian failure. Karyotype analysis and its association with phenotype were performed on 13 Iranian women with confirmed premature ovarian failure. The metaphase chromosomes were prepared and analyzed with G-bonding technique and mosaicism of 100 cells from lymphocyte cells was studied. Finally, chromosomal abnormalities were diagnosed in 2 of 13 patients (15.38%) with premature ovarian failure. A patient with chromosomal mosaicism was [42] XX, 46 / [8] X, 45. The second patient had a translocation between chromosome X and chromosome 9, that was 46, XX, t(X,9)(q22.1;q22,1).
Conclusion The overall prevalence of chromosomal abnormalities is 15.38% among patients with premature ovarian failure, which is confirmed by our findings in the chromosomal examination of these women.
Conclusion The overall prevalence of chromosomal abnormalities is 15.38% among patients with premature ovarian failure, which is confirmed by our findings in the chromosomal examination of these women.
CITATION LINKS
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[2]de Moraes-Ruehsen M, Jones GS. Premature ovarian failure. Fertil Steril. 1967;18(4):440-61.
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[4]Coulam CB, Stringfellow S, Hoefnagel D. Evidence for a genetic factor in the etiology of premature ovarian failure. Fertil Steril. 1983;40(5):693-5.
[5]Portnoi MF, Aboura A, Tachdjian G, Bouchard P, Dewailly D, Bourcigaux N, et al. Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum Reprod. 2006;21:2329-34.
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[7]Gardner HA, McConnon JK, MacKenzie MA. An X;9 translocation, primary amenorrhea, and hypothalamic dysfunction. Am J Med Genet. 1983;14(4):647-56.
[8]Leddet-Chevallier I, Reid RA, Carrel RE, Sparkes RS. Balanced reciprocal (X;9) translocation in a girl with primary amenorrhea. Ann genet. 1981;24(3):162-4.
[9]Jones GS, DeMoraes-Ruehsen MA. New syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus. Am J Obstet Gynecol. 1969;104(4):597-600.
[10]Maxson WS, Wentz AC. The gonadotropin resistant ovary syndrome. Semin Reprod Endocr. 1983;1(2):147-60.
[11]Fitch N, De Saint Victor J, Richer CL, Pinsky L, Sitahal S. Premature menopause due to a small deletion in the long arm of the X chromosome: A report of three cases and a review. Am J Obstet Gynecol. 1982;142(8):968-72.
[12]Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropichypogonadism in female patients with galactosemia. N Engl J Med. 1981;304(17):994-8.
[13]Smith A, Fraser IS, Noel M. Three siblings with premature gonadal failure. Fertil Steril. 1979;32(5):528-30.
[14]Baronchelli S, Villa N, Redaelli S, Lissoni S, Saccheri F, Panzeri E, et al. Investigating the role of X chromosome breakpoints in premature ovarian failure. Mol Cytogenet. 2012;5:32.
[15]Jiao X, Qin C, Li J, Qin Y, Gao X, Zhang B, et al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod. 2012;27(7):2201-7.
[16]Ceylaner G, Altinkaya SO, Mollamahmutoglu L, Ceylaner S. Genetic abnormalities in Turkish women with premature ovarian failure. Int J gynaecol Obstet. 2010;110(2):122-4.
[17]Zhang J, Tang YY, Guo YP. A study of hypergonadotropic secondary amenorrhea with cytogenetics. J Chongqing Med Univ. 2003;2:151-152.
[18]Castillo S, Lopez F, Tobella L, Salazar S, Daher V. The cytogenetics of premature ovarian failure. Rev Chil Obstet Ginecol. 1992;57(5):341-5. [Spanish]
[19]Wu RC, Kuo PL, Lin SJ, Liu CH, Tzeng CC. chromosome mosaicism in patients with recurrent abortion or premature ovarian failure. J Formos Med Assoc. 1993;92(11):953-6.
[2]de Moraes-Ruehsen M, Jones GS. Premature ovarian failure. Fertil Steril. 1967;18(4):440-61.
[3]Mattison DR, Evans MI, Schwimmer WB, White BJ, Jensen B, Schulman JD. Familial premature ovarian failure. Am J Hum Genet. 1984;36(6):1341-8.
[4]Coulam CB, Stringfellow S, Hoefnagel D. Evidence for a genetic factor in the etiology of premature ovarian failure. Fertil Steril. 1983;40(5):693-5.
[5]Portnoi MF, Aboura A, Tachdjian G, Bouchard P, Dewailly D, Bourcigaux N, et al. Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum Reprod. 2006;21:2329-34.
[6]Fassnacht W, Mempel A, Strowitzki T, Vogt PH. Premature ovarian failure (POF) syndrome: Towards the molecular clinical analysis of its genetic complexity. Curr Med Chem. 2006;13(12):1397-410.
[7]Gardner HA, McConnon JK, MacKenzie MA. An X;9 translocation, primary amenorrhea, and hypothalamic dysfunction. Am J Med Genet. 1983;14(4):647-56.
[8]Leddet-Chevallier I, Reid RA, Carrel RE, Sparkes RS. Balanced reciprocal (X;9) translocation in a girl with primary amenorrhea. Ann genet. 1981;24(3):162-4.
[9]Jones GS, DeMoraes-Ruehsen MA. New syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus. Am J Obstet Gynecol. 1969;104(4):597-600.
[10]Maxson WS, Wentz AC. The gonadotropin resistant ovary syndrome. Semin Reprod Endocr. 1983;1(2):147-60.
[11]Fitch N, De Saint Victor J, Richer CL, Pinsky L, Sitahal S. Premature menopause due to a small deletion in the long arm of the X chromosome: A report of three cases and a review. Am J Obstet Gynecol. 1982;142(8):968-72.
[12]Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropichypogonadism in female patients with galactosemia. N Engl J Med. 1981;304(17):994-8.
[13]Smith A, Fraser IS, Noel M. Three siblings with premature gonadal failure. Fertil Steril. 1979;32(5):528-30.
[14]Baronchelli S, Villa N, Redaelli S, Lissoni S, Saccheri F, Panzeri E, et al. Investigating the role of X chromosome breakpoints in premature ovarian failure. Mol Cytogenet. 2012;5:32.
[15]Jiao X, Qin C, Li J, Qin Y, Gao X, Zhang B, et al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod. 2012;27(7):2201-7.
[16]Ceylaner G, Altinkaya SO, Mollamahmutoglu L, Ceylaner S. Genetic abnormalities in Turkish women with premature ovarian failure. Int J gynaecol Obstet. 2010;110(2):122-4.
[17]Zhang J, Tang YY, Guo YP. A study of hypergonadotropic secondary amenorrhea with cytogenetics. J Chongqing Med Univ. 2003;2:151-152.
[18]Castillo S, Lopez F, Tobella L, Salazar S, Daher V. The cytogenetics of premature ovarian failure. Rev Chil Obstet Ginecol. 1992;57(5):341-5. [Spanish]
[19]Wu RC, Kuo PL, Lin SJ, Liu CH, Tzeng CC. chromosome mosaicism in patients with recurrent abortion or premature ovarian failure. J Formos Med Assoc. 1993;92(11):953-6.