Clinical characteristics and factors affecting quality of life in children with congenital adrenal hyperplasia

Background: Congenital Adrenal Hyperplasia (CAH) is a group of disorders characterized by impaired adrenal steroid hormone synthesis, with a wide spectrum of clinical manifestations. The prognosis of CAH depends on factors, such as clinical phenotype, treatment and management. Objectives: To analyze the factors influencing the quality of life in children with CAH. Methods: This retrospective study included 30 CAH patients divided into good prognosis (n=13) and poor prognosis (n=17) groups. Clinical characteristics, genetic mutations, treatment compliance, medication regimens and complications were analyzed by t-tests and logistic regression. Results: The good prognosis group presented better compliance (92.31% vs. 47.06%, P=0.017) and hormonal control (84.62% vs. 35.29%, P=0.01). The prevalence of the salt-wasting (SW) type of CAH was higher in the poor prognosis group (70.59% vs. 23.08%, P=0.038), while the simple virilizing (SV) type was higher in the good prognosis group (53.85% vs. 17.65%). The poor prognosis group received a higher hydrocortisone dose (16±3mg/m2/day) compared to the good prognosis group (12±4mg/m2/day, P=0.025). Complications such as hypertension (P=0.017), hyperpigmentation (P=0.026) and urinary incontinence (P=0.017) were more prevalent in the poor prognosis group. Conclusion: In children with CAH, the quality of life is significantly affected by treatment compliance, hormonal control, and the presence of complications.