Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is...

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Autores principales: Kırmızıbekmez, Heves, Yesiltepe Mutlu, Rahime Gül, Moralıoğlu, Serdar, Tellioğlu, Ahmet, Cerrah Celayir, Ayşenur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4313520/
https://www.ncbi.nlm.nih.gov/pubmed/25685584
http://dx.doi.org/10.1155/2015/196374
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author Kırmızıbekmez, Heves
Yesiltepe Mutlu, Rahime Gül
Moralıoğlu, Serdar
Tellioğlu, Ahmet
Cerrah Celayir, Ayşenur
author_facet Kırmızıbekmez, Heves
Yesiltepe Mutlu, Rahime Gül
Moralıoğlu, Serdar
Tellioğlu, Ahmet
Cerrah Celayir, Ayşenur
author_sort Kırmızıbekmez, Heves
collection PubMed
description Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned.
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spelling pubmed-43135202015-02-15 Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Kırmızıbekmez, Heves Yesiltepe Mutlu, Rahime Gül Moralıoğlu, Serdar Tellioğlu, Ahmet Cerrah Celayir, Ayşenur Case Rep Pediatr Case Report Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned. Hindawi Publishing Corporation 2015 2015-01-19 /pmc/articles/PMC4313520/ /pubmed/25685584 http://dx.doi.org/10.1155/2015/196374 Text en Copyright © 2015 Heves Kırmızıbekmez 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
Kırmızıbekmez, Heves
Yesiltepe Mutlu, Rahime Gül
Moralıoğlu, Serdar
Tellioğlu, Ahmet
Cerrah Celayir, Ayşenur
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
title Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
title_full Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
title_fullStr Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
title_full_unstemmed Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
title_short Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
title_sort concurrence of meningomyelocele and salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4313520/
https://www.ncbi.nlm.nih.gov/pubmed/25685584
http://dx.doi.org/10.1155/2015/196374
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