A Study on the Clinical profile and the Outcome of Treatment of Congenital Hypothyroidism in Children– Early versus Late diagnosis

ABSTRACT

Hypothyroidism is one of the most common diseases in pediatric endocrinology. Congenital hypothyroidism in this vital period will result in mental retardation and other neurological sequelae and is one of the commonest causes of preventable mental retardation and hence early diagnosis and treatment is mandatory. Methods: The prospective, observational study was conducted in Department of Pediatrics, Institute of Maternal and Child Health, Calicut Medical College for a period of two years on the Clinical profile and the outcome of treatment of Congenital hypothyroidism in children based on their age at diagnosis (below one year versus above one year) . After getting informed consent, history was taken. Physical and systemic examination was done. Anthropometric measurements were taken and laboratory investigations were done. Treatment was given and followed up to see the effect. Results are expressed in terms of frequencies and means. Data is analyzed using SPSS. Results: Delayed passage of meconium, constipation, prolonged physiological jaundice, wide fontanels and umbilical hernia were the clinical features present in a statistically significant proportion in the early treated group. Microcephaly, short stature, macroglossia, dry skin, and delayed bone age was high in the late diagnosis group. Treatment outcome was comparable in both groupsexcept for improvement in coarse facies and development quotient. Conclusion: Developmental delay at diagnosis is a significant problem even in the early diagnosis group, emphasizing the need of new born screening program. Irrespective of the age at diagnosis, thyroxine replacement helps to attain a comparable intellectual and physical development.