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

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,...

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Veröffentlicht in:Case reports in genetics 2013-01, Vol.2013 (2013), p.1-5
Hauptverfasser: Colao, Emma, Granata, Teresa, Vismara, Marco F. M., Bombardiere, Francesco, Nocera, Donatella, Luciano, Elisa, Perrotti, Nicola, Malatesta, Paola
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Sprache:eng
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Zusammenfassung: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.
ISSN:2090-6544
2090-6552
DOI:10.1155/2013/573841