Quality of Life in Children With Congenital Adrenal Hyperplasia: A Tertiary‐Center Case‐Control Study

BACKGROUND: Congenital adrenal hyperplasia (CAH) is a chronic endocrine disorder affecting adrenal steroidogenesis, often requiring lifelong glucocorticoid therapy. Its impact on health-related quality of life (HRQoL) in pediatric patients is inconsistent in the literature, with limited data from specific populations. OBJECTIVE: To compare HRQoL in children and adolescents with CAH to healthy peers, and to evaluate the influence of age, sex, ambiguous genitalia, and glucocorticoid dose. METHODS: This cross-sectional case-control study included 25 children and adolescents with CAH (aged 5-18 years) and 25 healthy controls frequency-matched for age and sex. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL™ 4.0) via child self-reports and parent proxy reports. Participants were grouped by age: 5-6, 7-12, and 13-18 years. Clinical data, including, presence of ambiguous genitalia, and glucocorticoid dose, were recorded. RESULTS: Overall, HRQoL scores were similar between CAH patients and controls. Age-stratified analysis showed that children aged 7-12 years with CAH reported higher physical functioning (p = 0.037) and total HRQoL (p = 0.04) compared to controls. Adolescents with CAH reported significantly lower school functioning (p = 0.03), while other domains were comparable. No significant differences in HRQoL were observed by sex, ambiguous genitalia, or glucocorticoid dose. CONCLUSION: Children and adolescents with CAH generally achieve HRQoL comparable to healthy peers under adequate treatment. Age-specific differences suggest younger children may experience preserved or enhanced physical well-being, while adolescents are vulnerable to reduced school functioning. These findings highlight the need for multidisciplinary, age-sensitive management strategies that include psychological and academic support, especially during adolescence.