A Cross-Sectional Study of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is an autosomal recessive disease caused by the deficiency of one of the enzymes of adrenal steroidogenesis, the most common of which is the deficiency of 21-hydroxylases. It represents a significant cause of morbidity and mortality in the pediatric population, especially in the absence of systematic neonatal screening in Morocco, which makes the management of these patients difficult for clinicians. This study aimed to describe the epidemiological, clinical, laboratory, evolutionary, and therapeutic profile of children followed for congenital adrenal hyperplasia at the pediatric endocrinology unit, Abderrahim Harrouchi Children's Hospital, Casablanca, Morocco. Materials and methods: A retrospective cross-sectional study including 184 children followed for congenital adrenal hyperplasia over a period of 11 years (from January 1, 2013, to December 31, 2023). The diagnosis was confirmed by molecular biology, and all clinical, laboratory, and radiological data were collected retrospectively from medical records.

The median age at diagnosis was 1.5 months (birth: 13 years). The consanguinity rate was 54.4% (n=100). A history of death in the family was found in 16.3% (n=30) of cases in a table of salt wasting and infections. The classic form was observed in 72% (n=132) of children compared to 28.3% (n=52) for the non-classical form. The virilizing form with salt wasting and the pure virilizing form represented 45.6% (n=84) and 26% (n=48) of cases, respectively. Deficiency in 21-hydroxylase was found in 91.8% (n=169) of children, while deficiency in 11-β-hydroxylase was identified in 4.9% (n=9) of cases, and in 3-β-hydroxysteroid dehydrogenase in 3.2% (n=6) of cases. A total of 40.7% (n=75) of children underwent corrective surgery of the external genitalia.

Congenital adrenal hyperplasia is a group of rare diseases. The best therapeutic alternative would be newborn screening and antenatal diagnosis.