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

الملخص EN

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.