Background: Screening for congenital hypothyroidism (CH) in newborns and early treatment of the condition is a cost effective way of preventing mental retardation and growth retardation worldwide.
Objective and hypotheses: To highlight consequences of delayed diagnosis and treatment of four children with congenital hypothyroidism in our centre.
Method: We present four cases of children with congenital hypothyroidism seen at our centre. Information was retrieved from endocrine register and case files of the patients. Details on clinical history, examination, investigations, treatment and outcome retrieved.
Result: The children reported included four males and a female with age range between 12 months and 13 years. Age at diagnosis ranged between 8 months and 4 years. Commonest reason for presentation was mental apathy, dull look, delayed milestones. All patients had nonspecific features of CH within the first 3 months of life. Confirmatory diagnosis using thyroid function was done in all patients and l-thyroxin commenced. There was an improvement in general condition in all the children, but delayed developmental milestones, mental apathy and inability to cope with formal education was noted in those of school age.
Conclusion: No child was diagnosed in new-born period despite presence of some nonspecific features of CH. New-born screening is therefore advocated to prevent the cumulative increase in children with mental retardation.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology