Abstract
Objectives: To determine the various clinical presentations of and abnormalities associated with congenital hypothyroidism among children diagnosed in Saudi Arabia.
Methods: A retrospective, descriptive study of congenital hypothyroidism and associated abnormalities was conducted in Saudi Arabia from January 2015 to October 2018 and included 173 children aged 0 to 12 months. Data were obtained by reviewing medical records and laboratory results via the hospital's electronic system. Results were analyzed using descriptive statistics.
Results: Of the 173 diagnosed cases; primary hypothyroidism was most common (95% of cases), while secondary hypothyroidism was diagnosed in 5% of cases. Of all cases diagnosed via the neonatal screening program, 57% were asymptomatic at the time of diagnosis and 43% were symptomatic. Prolonged jaundice (79%) was the most common clinical presentation. Other signs were constipation (7%), hypotonia (6%), goiter (4%), macroglossia (3%), and facial puffiness (1%). Associated congenital anomalies were found in 13% of cases.
Conclusion: The findings confirm the importance of the neonatal thyroid-screening program, as 57% of diagnosed children were not symptomatic at diagnosis. Pediatricians should be aware of the various clinical presentations of congenital hypothyroidism, particularly prolonged neonatal jaundice.