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Case Reports in Genetics
Volume 2012 (2012), Article ID 640563, 8 pages
Case Report

Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes

1Clinical Research Facility-Medical Biotechnology, Centre for Cellular and Molecular Biology, Annexe II, Hyderabad 500007, India
2Genome Foundation, Centre for Cellular and Molecular Biology, Hyderabad 500007, India
3Infertility Institute and Research Centre, Secunderabad 500063, India
4Tapadia Diagnostic Centre, Hyderabad 500029, India
5Krishna Institute of Medical Sciences, Hyderabad 500016, India
6Institute of Reproductive Medicine, Kolkata 700064, India
7Department of Genetics, Osmania University, Hyderabad 500007, India

Received 26 December 2011; Accepted 7 February 2012

Academic Editors: A. Baumer, C.-W. Cheng, P. D. Cotter, P. Saccucci, A. Sazci, and G. Vogt

Copyright © 2012 Lakshmi Rao Kandukuri et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Premature ovarian failure is defined as the loss of functional follicles below the age of 40 years and the incidence of this abnormality is 0.1% among the 30–40 years age group. Unexplained POF is clinically recognized as amenorrhoea (>6 months) with low level of oestrogen and raised level of Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH > 20 IU/l) occurring before the age of 40. It has been studied earlier that chromosomal defects can impair ovarian development and its function. Since there is paucity of data on chromosomal defects in Indian women, an attempt is made to carry out cytogenetic evaluation in patients with ovarian failure. Cytogenetic analysis of women with ovarian defects revealed the chromosome abnormalities to be associated with 14% of the cases analyzed. Interestingly, majority of the abnormalities involved the X-chromosome and we report two unique abnormalities, (46,XXdel(Xq21-22) and q28) and (mos,45XO/46,X+ringX) involving X chromosome in association with ovarian failure. This study revealed novel X chromosome abnormalities associated with ovarian defects and these observations would be helpful in genetic counseling and apart from, infertility clinics using the information to decide suitable strategies to help such patients.