Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Aziz Siddiqui, Saima, Soomro, Nargis, Ganatra, Ashraf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publicaitons 2013
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
_version_ 1782288655572795392
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
work_keys_str_mv AT azizsiddiquisaima classiccongenitaladrenalhyperplasiaadelayedpresentation
AT soomronargis classiccongenitaladrenalhyperplasiaadelayedpresentation
AT ganatraashraf classiccongenitaladrenalhyperplasiaadelayedpresentation