Mortality in Children with Classic Congenital Adrenal Hyperplasia and 21-Hydroxylase Deficiency (CAH) in Germany

Helmuth G Dörr,Joachim Woelfle,Hartmut A Mwollmann,Berthold P Hauffa

doi:10.37247/paendo.1.2020.11

Abstract

Mortality in Children with Classic Congenital Adrenal Hyperplasia and 21-Hydroxylase Deficiency (CAH) in Germany

Highlights

Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to death
Our survey covered the whole of Germany, i.e. the situation before reunification of East and West Germany in 1990
The genotype Null was found in 5 children, and genotype A in 3 children, i.e., all these children had a severe form of Congenital adrenal hyperplasia (CAH)

Summary

Introduction

Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to death. Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessively inherited disorders of cortisol biosynthesis in the adrenal cortex. More than 95% of the disorders are based on a defect of CYP21A2 (21-hydroxylase). The classic defect of CYP21A2 occurs in two forms: CAH with salt wasting (SW) and simple virilizing CAH [1-4]. Adrenal crisis occurring within the scope of stress situations is especially feared and a major cause of morbidity and mortality in children [14]. In adults with classic CAH, the frequency of adrenal crises was 5.8 per 100 patient years [15], and Falhammer et al reported on an increased mortality in adults with SW-CAH [16]. Reports on mortality of children with CAH vary between 3% and 13% [17-19]

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