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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Published in:Case reports in pediatrics 2015-01, Vol.2015 (2015), p.1-4
Main Authors: Tellioğlu, Ahmet, Moralıoğlu, Serdar, Yesiltepe Mutlu, Rahime Gül, Kırmızıbekmez, Heves, Cerrah Celayir, Ayşenur
Format: Article
Language:English
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Case Report
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Summary: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.
ISSN:2090-6803
2090-6811
DOI:10.1155/2015/196374