Clinical tools for evaluating congenital adrenal hyperplasia in resource-limited hospitals: a study at a tertiary hospital in Saudi Arabia

Background: Congenital adrenal hyperplasia (CAH) treatment is complicated by hormonal imbalances, necessitating a dual therapeutic approach to both correct cortisol deficiency and manage androgen overproduction. Unfortunately, hospitals with limited resources lack some necessary standard laboratory tests to manage patients with CAH. Objective: To investigate the interrelation between different monitoring strategies in clinical practice for managing patients with CAH. Methods: This prospective cross-sectional study involved children with CAH caused by 21-hydroxylase deficiency (21-OHD) treated at King Faisal Specialist Hospital and Research Centre. KFSHRC is not resource-limited; the proposed recommendations are intended for settings that lack full biochemical panels. Univariable, bivariable, and multivariable logistic regression were done for association testing. Results: The cohort included 96 children with 21-OHD, predominantly female (61.5%), with a median age of 6 years. Adrenal crises occurred in 20.8% of patients. Most participants were treated with hydrocortisone (97.9%) and fludrocortisone (88.5%), with high reported treatment compliance (90.6%). Biochemical abnormalities were observed in 26% for ACTH, 21.9% for 17-OHP, and 17.7% for testosterone. Biochemical control was significantly associated with treatment compliance (OR 7.6, p = 0.03). In adjusted analyses, androstenedione, ACTH, and testosterone control were strongly associated with 17-OHP control (all p < 0.01). Regarding skeletal outcomes, older age was inversely associated with bone age control, whereas clinical control (OR 11.1, p < 0.01) and controlled androstenedione levels (OR 3.0, p = 0.04) were independent predictors of optimal bone age. Conclusion: Based on these findings, we recommend integrating growth velocity monitoring and androstenedione testing into routine visits as valuable indicators for assessing clinical control in 21-OHD children. Yet, larger studies are needed to validate simplified monitoring frameworks for resource-limited hospitals.