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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Journal of the Nepal Medical Association
2020
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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. |
format | Online Article Text |
id | pubmed-7580480 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Journal of the Nepal Medical Association |
record_format | MEDLINE/PubMed |
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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