A Case of Premature Ovarian Failure in a 33-Year-Old Woman
| Autor: | Donatella Nocera, Francesco Bombardiere, Nicola Perrotti, Marco Flavio Michele Vismara, Teresa Granata, Emma Colao, Paola Malatesta, Elisa Luciano |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Pediatrics
medicine.medical_specialty lcsh:QH426-470 endocrine system diseases Turner syndrome Genetic counseling Case Report premature ovarian failure (POF) Bioinformatics medicine business.industry General Medicine karyotyping medicine.disease University hospital female genital diseases and pregnancy complications Premature ovarian failure lcsh:Genetics mosaicism FISH study Etiology Medical genetics premature ovarian failure (POF) mosaicism Genetic counseling karyotyping FISH study Turner syndrome business |
| Zdroj: | Case Reports in Genetics Case Reports in Genetics, Vol 2013 (2013) |
| ISSN: | 2090-6552 2090-6544 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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