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Case Reports in Genetics
Volume 2013, Article ID 573841, 5 pages
Case Report

A Case of Premature Ovarian Failure in a 33-Year-Old Woman

Medical Genetics Unit, University Hospital “Policlinico Mater Domini”, Magna Graecia University at Catanzaro, Viale Europa, Campus Salvatore Venuta, 88100 Catanzaro, Italy

Received 29 September 2012; Accepted 23 October 2012

Academic Editors: M. Fenger, P. Saccucci, and A. M. Slavotinek

Copyright © 2013 Emma Colao 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.


Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF). Intervention(s). Genetic counseling, karyotyping, FISH study. Result(s). Turner-like diagnosis. Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype.