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Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development
Androgen Insensitivity Syndrome (AIS) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects. It depends on an X-linked mutations in the Androgen...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600229/ https://www.ncbi.nlm.nih.gov/pubmed/23533861 http://dx.doi.org/10.1155/2013/232696 |
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author | Pizzo, Alfonsa Laganà, Antonio Simone Borrielli, Irene Dugo, Nella |
author_facet | Pizzo, Alfonsa Laganà, Antonio Simone Borrielli, Irene Dugo, Nella |
author_sort | Pizzo, Alfonsa |
collection | PubMed |
description | Androgen Insensitivity Syndrome (AIS) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects. It depends on an X-linked mutations in the Androgen Receptor (AR) gene that express a variety of phenotypes ranging from male infertility to completely normal female external genitalia. The clinical phenotypes of AIS could vary and be classified into three categories, as complete (CAIS), partial (PAIS), and mild (MAIS) forms, according to the severity of androgen resistance. We will describe a case of CAIS in a 16-year-old patient. |
format | Online Article Text |
id | pubmed-3600229 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-36002292013-03-26 Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development Pizzo, Alfonsa Laganà, Antonio Simone Borrielli, Irene Dugo, Nella Case Rep Obstet Gynecol Case Report Androgen Insensitivity Syndrome (AIS) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects. It depends on an X-linked mutations in the Androgen Receptor (AR) gene that express a variety of phenotypes ranging from male infertility to completely normal female external genitalia. The clinical phenotypes of AIS could vary and be classified into three categories, as complete (CAIS), partial (PAIS), and mild (MAIS) forms, according to the severity of androgen resistance. We will describe a case of CAIS in a 16-year-old patient. Hindawi Publishing Corporation 2013 2013-02-27 /pmc/articles/PMC3600229/ /pubmed/23533861 http://dx.doi.org/10.1155/2013/232696 Text en Copyright © 2013 Alfonsa Pizzo 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 Pizzo, Alfonsa Laganà, Antonio Simone Borrielli, Irene Dugo, Nella Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development |
title | Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development |
title_full | Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development |
title_fullStr | Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development |
title_full_unstemmed | Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development |
title_short | Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development |
title_sort | complete androgen insensitivity syndrome: a rare case of disorder of sex development |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600229/ https://www.ncbi.nlm.nih.gov/pubmed/23533861 http://dx.doi.org/10.1155/2013/232696 |
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