Clinical spectrum and follow-up study of congenital hypothyroidism at District Hospital in India.

Twenty cases of clinically diagnosed congenital hypothyroidism during a 7-year period at a District Hospital in South India are analysed. A maximum of nine cases were diagnosed in the age group 1-5 years, only two before 3 months of age and five after 10 years of age. Two siblings of one family had the disease. Three children were associated with muscular hypertrophy, i.e. Kocher-Debre-Semelaigne Syndrome. Constipation and delayed milestones were the commonest symptoms (60 per cent). Classical facies (100 per cent), wide open anterior fontanella (65 per cent), coarse skin (60 per cent), and stunted growth (60 per cent) were the common physical findings. IQ was in between 30 and 40 in 60 per cent of cases. Only 50 per cent of them were followed up for a period of 1-5 years. Though physical growth was good on thyroxine IQ of above 80 was achieved in only three (30 per cent).