Publications - Journal

Nine Years Experience of Congenital Hypothyroidism; An Urgent Need for Mandatory Newborn Screening.

Volumn 34, Issue 3 - September 01, 2010

Back Ground: Hypothyroidism is one of the most common endocrinopathy in childhood and a preventable cause of mental retardation. The incidence in Pakistan is around 1 in 1000 newborns. Children with delayed diagnosis and treatment present primarily with developmental delay thereby necessitating the urgent need for mandatory neonatal screening.

Methods: A total of 351 children case records were reviewed from January 2000 till December 2008. Age of presentation, clinical features and laboratory investigations were assessed which included bone age, thyroid function tests (Free T4, Free T3 and thyroid stimulating hormone) and thyroid scan.

Results: In our study of 351 children, the foremost presenting complaint was developmental delay (83%). Majority of children belonged to the 1 to 5 years age group, because of delayed diagnosis and treatment. There was a female predominance with a female: male ratio of 1.7:1. Constipation (83%) and periorbital puffiness (54%) were the chief complaints in all age groups and agenesis (72%) was the commonest cause of congenital hypothyroidism. Goiter was found to be present in 11%.

Conclusion: This study shows a huge number of children with undiagnosed congenital hypothyroidism present with developmental delay; the dilemma is that the numbers of our study although being enormous are from only one tertiary care hospital. This highlights the urgent need for making newborn screening mandatory for our children to prevent permanent brain damage and neurological dysfunction.

Key Words: Mental retardation, Hypothyroidism, Newborn screening

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