Congenital adrenal hyperplasia in Tunisia: clinical characteristics and management from a monocentric retrospective study

Résumé

Background:

Congenital adrenal hyperplasia (CAH) represents a spectrum of autosomal recessive disorders of adrenal steroidogenesis. In Tunisia, the lack of systematic neonatal screening and the high rate of consanguinity may lead to delayed diagnosis and more severe presentations.

Objective:

The objective of this study was to describe the clinical, genetic, therapeutic, and evolutionary characteristics of children with CAH in a pediatric Tunisian center.

Study design:

A retrospective descriptive study was conducted over a 15-year period in the Pediatric Department of Habib Bougatfa Hospital, Bizerte, Tunisia. All children with a confirmed diagnosis of CAH were included.

Results:

Eleven patients were included. Consanguinity was reported in 7 cases. One patient was diagnosed prenatally. The median age at postnatal diagnosis was 30 days. The main diagnostic circumstances were disorders of sex development (DSD) (n=6), failure to thrive (n=2), and salt-wasting crisis (n=2).

21-hydroxylase deficiency was the most frequent etiology (8/11), followed by P450 oxidoreductase deficiency (n=2) and StAR-related lipoid CAH (n=1). All patients received standard hormonal replacement therapy (hydrocortisone, fludrocortisone, sodium). Surgical management was required for four patients with DSD. During follow-up, three patients developed adrenal crises, while growth and pubertal development were normal in most cases.

Conclusion:

CAH remains a complex disorder that requires early diagnosis and multidisciplinary management. The findings underscore the value of molecular diagnosis and the need for heightened clinical suspicion to ensure timely management, particularly in countries where neonatal screening is not yet implemented.