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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Autores principales: Colao, Emma, Granata, Teresa, Vismara, Marco F. M., Bombardiere, Francesco, Nocera, Donatella, Luciano, Elisa, Perrotti, Nicola, Malatesta, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569886/
https://www.ncbi.nlm.nih.gov/pubmed/23509644
http://dx.doi.org/10.1155/2013/573841
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author Colao, Emma
Granata, Teresa
Vismara, Marco F. M.
Bombardiere, Francesco
Nocera, Donatella
Luciano, Elisa
Perrotti, Nicola
Malatesta, Paola
author_facet Colao, Emma
Granata, Teresa
Vismara, Marco F. M.
Bombardiere, Francesco
Nocera, Donatella
Luciano, Elisa
Perrotti, Nicola
Malatesta, Paola
author_sort Colao, Emma
collection PubMed
description 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.
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spelling pubmed-35698862013-03-18 A Case of Premature Ovarian Failure in a 33-Year-Old Woman Colao, Emma Granata, Teresa Vismara, Marco F. M. Bombardiere, Francesco Nocera, Donatella Luciano, Elisa Perrotti, Nicola Malatesta, Paola Case Rep Genet Case Report 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. Hindawi Publishing Corporation 2013 2013-01-29 /pmc/articles/PMC3569886/ /pubmed/23509644 http://dx.doi.org/10.1155/2013/573841 Text en Copyright © 2013 Emma Colao et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Colao, Emma
Granata, Teresa
Vismara, Marco F. M.
Bombardiere, Francesco
Nocera, Donatella
Luciano, Elisa
Perrotti, Nicola
Malatesta, Paola
A Case of Premature Ovarian Failure in a 33-Year-Old Woman
title A Case of Premature Ovarian Failure in a 33-Year-Old Woman
title_full A Case of Premature Ovarian Failure in a 33-Year-Old Woman
title_fullStr A Case of Premature Ovarian Failure in a 33-Year-Old Woman
title_full_unstemmed A Case of Premature Ovarian Failure in a 33-Year-Old Woman
title_short A Case of Premature Ovarian Failure in a 33-Year-Old Woman
title_sort case of premature ovarian failure in a 33-year-old woman
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569886/
https://www.ncbi.nlm.nih.gov/pubmed/23509644
http://dx.doi.org/10.1155/2013/573841
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