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.