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

Author:

Kırmızıbekmez Heves1,Yesiltepe Mutlu Rahime Gül1,Moralıoğlu Serdar2,Tellioğlu Ahmet3,Cerrah Celayir Ayşenur2

Affiliation:

1. Pediatric Endocrinology, Zeynep Kamil Obstetrics and Pediatrics Education and Research Hospital, 34668 Istanbul, Turkey

2. Pediatric Surgery, Zeynep Kamil Obstetrics and Pediatrics Education and Research Hospital, 34668 Istanbul, Turkey

3. Department of Pediatrics, Zeynep Kamil Obstetrics and Pediatrics Education and Research Hospital, 34668 Istanbul, Turkey

Abstract

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.

Publisher

Hindawi Limited

Subject

General Medicine

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