A Case of Premature Ovarian Failure in a 33-Year-Old Woman. (29th January 2013)

• Record Type: Journal Article
• Authors: Colao, Emma; Granata, Teresa; Vismara, Marco F. M.; Bombardiere, Francesco; Nocera, Donatella; Luciano, Elisa; Perrotti, Nicola; Malatesta, Paola
• Other Names: Fenger M. Academic Editor.; Saccucci P. Academic Editor.; Slavotinek A. M. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2013(2013)
• Publication Date: 2013-01-29
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2013/573841
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : 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.