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Classic congenital adrenal hyperplasia: A delayed presentation
Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infa...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Professional Medical Publicaitons
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809185/ https://www.ncbi.nlm.nih.gov/pubmed/24353545 http://dx.doi.org/10.12669/pjms.291.2830 |
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author | Aziz Siddiqui, Saima Soomro, Nargis Ganatra, Ashraf |
author_facet | Aziz Siddiqui, Saima Soomro, Nargis Ganatra, Ashraf |
author_sort | Aziz Siddiqui, Saima |
collection | PubMed |
description | Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, extent of virilization & genotype, surgical corrective procedures, glucocorticoid & mineralocorticoid replacement therapy are the mainstay of management. We present here a case of classic congenital adrenal hyperplasia of simple virilizing type, which presented later in childhood. |
format | Online Article Text |
id | pubmed-3809185 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Professional Medical Publicaitons |
record_format | MEDLINE/PubMed |
spelling | pubmed-38091852013-12-18 Classic congenital adrenal hyperplasia: A delayed presentation Aziz Siddiqui, Saima Soomro, Nargis Ganatra, Ashraf Pak J Med Sci Case Report Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, extent of virilization & genotype, surgical corrective procedures, glucocorticoid & mineralocorticoid replacement therapy are the mainstay of management. We present here a case of classic congenital adrenal hyperplasia of simple virilizing type, which presented later in childhood. Professional Medical Publicaitons 2013 /pmc/articles/PMC3809185/ /pubmed/24353545 http://dx.doi.org/10.12669/pjms.291.2830 Text en http://creativecommons.org/licenses/by/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Aziz Siddiqui, Saima Soomro, Nargis Ganatra, Ashraf Classic congenital adrenal hyperplasia: A delayed presentation |
title | Classic congenital adrenal hyperplasia: A delayed presentation |
title_full | Classic congenital adrenal hyperplasia: A delayed presentation |
title_fullStr | Classic congenital adrenal hyperplasia: A delayed presentation |
title_full_unstemmed | Classic congenital adrenal hyperplasia: A delayed presentation |
title_short | Classic congenital adrenal hyperplasia: A delayed presentation |
title_sort | classic congenital adrenal hyperplasia: a delayed presentation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809185/ https://www.ncbi.nlm.nih.gov/pubmed/24353545 http://dx.doi.org/10.12669/pjms.291.2830 |
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