Case Reports in Genetics (Jan 2013)

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

  • Emma Colao,
  • Teresa Granata,
  • Marco F. M. Vismara,
  • Francesco Bombardiere,
  • Donatella Nocera,
  • Elisa Luciano,
  • Nicola Perrotti,
  • Paola Malatesta

DOI
https://doi.org/10.1155/2013/573841
Journal volume & issue
Vol. 2013

Abstract

Read online

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.