Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a lifelong endocrine disorder requiring pharmacotherapy, surgical interventions with potential life-threatening complications. This study aimed to assess child- and parent-reported QOL using the Pediatric Quality of Life Inventory (PedsQL) and explore clinical factors associated with QOL.

Methods: A descriptive cross-sectional study was conducted at a pediatric endocrine clinic. Children with CAH and their parents were participated. PedsQL questionnaires were administered to both children and their parents. Statistical analysis included Wilcoxon signed-rank tests for parent-child comparisons and Mann–Whitney U tests to explore associations with clinical variables with Effect sizes.

Results: The cohort included 44 children (22 males), with a median age of 7.2 years (IQR 5–9). Most patients presented in the neonatal period (84.1%), and classic salt-losing CAH was most common (79.5%). Advanced bone age was present in 40.9%, peripheral precocious puberty in 31.8%, and central precocious puberty in 13.6%. Feminizing genitoplasty and hypospadias repair were performed in 38.6% and 18.2% of children, respectively. Children reported significantly higher total PedsQL scores than their parents’ proxy reports (Z = −2.461, P = 0.014, r =0.57), particularly in emotional (Z = −2.480, P = 0.013) and social functioning (Z = −2.021, P = 0.043, r =0.37). No significant differences were observed in physical (Z = −1.875, P = 0.061, r =0.28) or school functioning (Z = −1.643, P = 0.10, r =0.25). Children with advanced bone age had lower total PedsQL scores compared with those without advanced bone age (U = 145.0, P = 0.033, r =0.32). Total scores were not significantly associated with CAH type, sex, surgical history, age at presentation, or current grade.

Conclusion: Children with CAH perceived better overall quality of life than their parents’ proxy reports, especially in emotional and social domains. Possibly due to low predicted adult height advanced bone age was associated with poorer child-reported QOL. Total scores were slightly higher than those reported in other pediatric populations. These findings suggest that clinical outcomes, rather than demographic or sub-type factors alone, may influence perceived quality of life, highlighting the potential importance of ongoing monitoring and disease management.