Abstract
BackgroundChildren with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement and have daily intermittent hyper/hypocortisolemia and hyperandrogenemia. Health-related quality of life (HRQL) is important for understanding the impact the disease and therapy have on physical, mental, emotional, and social functioning. Little is known about HRQL in CAH. We compared HRQL in children with CAH to healthy norms and examined how these scores related to physiologic variables.MethodsA cross-sectional study examined 45 patients (mean age 8.2(4.5) years). Thirty-two self-reported their quality of life (QoL) on the PedsQL™ Generic Core Scale and PedsQL™ Fatigue Scale, and 44 parents completed a parent report. Bone age Z-scores were calculated from the most recent bone age.ResultsChildren with CAH did not report lower QoL than healthy norms. However, their parents reported lower overall QoL and fatigue scores than parents of healthy norms. Children with CAH rated sleep poorer than their parents. QoL scores did not differ by sex or CAH subtype and were not associated with total daily hydrocortisone dose. Bone age Z-scores were negatively associated with child-reported emotional health and cognitive fatigue.ConclusionsParents of children with CAH reported a negative impact of disease on their children’s QoL, but their children did not. The negative associations between bone age Z-scores and emotional health and cognitive fatigue suggest an impact from chronic hypocortisolemia and hyperandrogenemia.
Highlights
Children with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement and have daily intermittent hyper/hypocortisolemia and hyperandrogenemia
Children with CAH did not report lower scores on the overall PedsQLTM Generic Core or subscales compared to healthy child norms [Table 2] and even rated their physical health higher than healthy children (95% CI (2.10, 10.14), p = 0.0
Children with CAH did not report lower scores on the overall PedsQLTM Fatigue total or subscales compared to healthy child norms [Table 2]
Summary
Children with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement and have daily intermittent hyper/hypocortisolemia and hyperandrogenemia. Health-related quality of life (HRQL) is important for understanding the impact the disease and therapy have on physical, mental, emotional, and social functioning. Little is known about HRQL in CAH. We compared HRQL in children with CAH to healthy norms and examined how these scores related to physiologic variables. Congenital adrenal hyperplasia (CAH) due to 21αhydroxylase deficiency is a form of adrenal insufficiency characterized by impaired cortisol synthesis and excessive adrenal androgen production. CAH is classified as either classic (severe phenotype) or non-classic (mild phenotype). Treatment for CAH involves life-long glucocorticoid replacement. Hydrocortisone is the recommended glucocorticoid at 10-15 mg/m2/day [1].
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