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.
A case of premature ovarian failure in a 33-year-old woman / Colao, Emma; Granata, Teresa; Vismara, Marco Flavio Michele; Bombardiere, Francesco; Nocera, Donatella; Luciano, Elisa; Perrotti, Nicola; Malatesta, Paola. - In: CASE REPORTS IN GENETICS. - ISSN 2090-6552. - 2013:(2013), pp. 573841-5. [10.1155/2013/573841]
A case of premature ovarian failure in a 33-year-old woman
Vismara, Marco Flavio MicheleCo-primo
;
2013
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
