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Clinical Presentations of Congenital Hypothyroidism and Associated Abnormalities in Children Treated at Western Saudi Arabia

Abdulmoein E Al-Agha, Dareen S Alghalbi, Shahad J Ashgar and Arwa A Badakhan

Objectives: To determine the various clinical presentations of and abnormalities associated with congenital hypothyroidism among children diagnosed at King Abdulaziz University Hospital (KAUH), Jeddah, Western Region, Saudi Arabia. Methods: A retrospective, descriptive study of congenital hypothyroidism and associated abnormalities was conducted in Jeddah, Saudi Arabia from January 2010 to January 2015 and included 173 children aged 0 to 12 months. Data were obtained by reviewing KAUH medical records and laboratory results via the hospital’s electronic “Phoenix” 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.