HEALTH-RELATED QUALITY OF LIFE IN CHILDREN AND ADOLESCENTS WITH NON-CLASSIC CONGENITAL ADRENAL HYPERPLASIA

Abstract Objective: Non-classic congenital adrenal hyperplasia (NCCAH) is a late-onset milder form of congenital adrenal hyperplasia (CAH) which differs dramatically from the classic form. Health-related quality of life (HRQOL) in pediatric patients with the sole diagnosis of NCCAH has not been determined, in this study we aimed to determine whether HRQOL is compromised in comparison to the general population. Methods: Single-center, cross-sectional, case-control study. Twenty-three hydrocortisone-treated children and adolescents (seven males) diagnosed with NCCAH by cosyntropin stimulation test and CYP21A2 gene mutation analysis were recruited to this study, six healthy siblings were also recruited. HRQOL was assessed by the child and parent-proxy PedsQL Inventory and compared between NCCAH subjects and healthy siblings. HRQOL scores of NCCAH subjects were compared with known standards from the USA and Israeli general healthy population. Anthropometric measurements of children and parents were performed ...