Cytogenetic Analysis of 13 Iranian Women with Premature Ovarian Failure

Background & Aims: This retrospective cohort study was to determine the frequency and types of chromosomal abnormalities in Iranian women with well-documented premature ovarian failure (POF). Materials & Methods: Karyotype analysis and correlation to phenotypes were performed on 13 Iranian patients with proven POF (FSH > 40 mIU/ml) attending reproductive clinics in Sarem Hospital. G-banded metaphase chromosomes were prepared and analyzed, in the case of mosaicism, 100 cells were examined. Results: Chromosomal abnormalities were present in 2 of 13 (15.38%) POF cases, These were numerical and structural abnormalities of X chromosome, described as 45,X[8]/46,XX[42], and 46,XX,t(X,9)(q22.1;q22.1). Conclusion: The overall prevalence of chromosomal abnormalities was 15.38% in this report in women with POF. Our findings emphasize the need to investigate choromosomal abnormalities. keywords: cytogenetics, POF, premature ovarian failure, prevalence, chromosomal abnormality. Submission Date: 26. May. 2014 | Acceptance Date: 1. Dec. 2014 1MD, Genetic Counselor, Sarem Fertility & Infertility Research Center (SAFIR), Sarem Cell Research Center (SCRC) & Genetic Department of Sarem Women’s Hospital, Tehran, Iran. 2MSc, Human Genetics, Genetic Department of Sarem Women's Hospital, Tehran, Iran. 3MD, Pediatrician & Clinical Geneticist, Sarem Fertility & Infertility reaearch Center (SAFIR), Sarem Cell Research Center (SCRC), Genetic Department of Sarem Women's Hospital, Tehran, Iran & Genetic reaearch Center, University of Welfore & Rehabilitation scienws, Tehran, Iran. 4PhD, Medical Geneicist, Sarem Fertility & Infertility reaearch Center (SAFIR), Sarem Cell Research Center (SCRC), Genetic Department of Sarem Women's Hospital, Tehran, Iran & Genetic reaearch Center, University of Welfore & Rehabilitation scienws, Tehran, Iran. *Corresponding Author Email: f behjati@gmail.com