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Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical. The severe form also called Classical Congenital Adrenal Hyperplasia is...

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Autores principales: Khanal, Deepa, Mandal, Deependra, Phuyal, Rajan, Adhikari, Uttara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the Nepal Medical Association 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580480/
https://www.ncbi.nlm.nih.gov/pubmed/32335642
http://dx.doi.org/10.31729/jnma.4811
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author Khanal, Deepa
Mandal, Deependra
Phuyal, Rajan
Adhikari, Uttara
author_facet Khanal, Deepa
Mandal, Deependra
Phuyal, Rajan
Adhikari, Uttara
author_sort Khanal, Deepa
collection PubMed
description Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical. The severe form also called Classical Congenital Adrenal Hyperplasia is usually detected after birth to infant period. If Congenital Adrenal Hyperplasia is not diagnosed and treated early, neonates are susceptible to sudden death in the early weeks of life. We report a case of thirty-five days male with a salt-wasting variant of congenital adrenal hyperplasia. The diagnosis was based on an elevated level of 17-hydroxyprogesterone. He was managed and life long oral Prednisolone and Fludrocortisone were prescribed.
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spelling pubmed-75804802020-11-30 Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report Khanal, Deepa Mandal, Deependra Phuyal, Rajan Adhikari, Uttara JNMA J Nepal Med Assoc Case Report Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency which can be classical or non-classical. The severe form also called Classical Congenital Adrenal Hyperplasia is usually detected after birth to infant period. If Congenital Adrenal Hyperplasia is not diagnosed and treated early, neonates are susceptible to sudden death in the early weeks of life. We report a case of thirty-five days male with a salt-wasting variant of congenital adrenal hyperplasia. The diagnosis was based on an elevated level of 17-hydroxyprogesterone. He was managed and life long oral Prednisolone and Fludrocortisone were prescribed. Journal of the Nepal Medical Association 2020-01 2020-01-31 /pmc/articles/PMC7580480/ /pubmed/32335642 http://dx.doi.org/10.31729/jnma.4811 Text en © The Author(s) 2018. http://creativecommons.org/licenses/by/4.0/ This is an Open-Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Khanal, Deepa
Mandal, Deependra
Phuyal, Rajan
Adhikari, Uttara
Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
title Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
title_full Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
title_fullStr Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
title_full_unstemmed Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
title_short Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report
title_sort congenital adrenal hyperplasia with salt wasting crisis: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580480/
https://www.ncbi.nlm.nih.gov/pubmed/32335642
http://dx.doi.org/10.31729/jnma.4811
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