Impact of early diagnosis and consistent management on health-related quality of life and fatigue in children with congenital hypothyroidism

ABSTRACT Objectives: Delayed diagnosis and inadequate adherence to therapy may impair the health-related quality of life (HRQoL) in children with congenital hypothyroidism (CH). There is a scarcity of studies on HRQoL in children with CH born in countries without established newborn screening programs (NBS). Materials and Methods: This single-center case–control study compared 50 children with CH to 50 age and sex-matched healthy controls. HRQoL and fatigue were measured using the Pediatric Quality of Life Inventory (PedsQL) 4.0, Multidimensional Generic Core Scale, and the PedsQL 4.0 Multidimensional Fatigue Scale, respectively. Associations between the age at treatment initiation, interruptions, and outcomes were analyzed. Results: Children with CH had significantly lower HRQoL scores compared to controls in both child (71.03 vs. 91.62, P < 0.001) and parent reports (66.57 vs. 90.98, P < 0.001). Fatigue scores were also lower among cases, indicating more severe fatigue (69.98 vs. 91.93, P < 0.001). Early levothyroxine therapy was associated with improved HRQoL and reduced fatigue, whereas treatment interruptions negatively impacted these outcomes. Conclusions: Early diagnosis and consistent treatment are crucial for improving HRQoL and reducing fatigue in children with CH. Strengthening NBS to facilitate early diagnosis and promote treatment adherence is imperative to optimize long-term outcomes.