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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...

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Autores principales: Pizzo, Alfonsa, Laganà, Antonio Simone, Borrielli, Irene, Dugo, Nella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
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.
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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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