The syndrome of sporadic goitre and congenital deafness.

A study was conducted on 44 sibs with congenital deafness and goitre, belonging to 26 families. 1-131 uptake test was done in 38 patients and it showed that the percent increase between two successive readings was lower than in euthyroids and those with simple goitre. Perchlorate discharge test was done in 29 cases and it was established that the percentage of discharge was related to the severity of the disease. The size and nodularity of the goitres was found to be directly proportional to the age of the patient. By genetic studies the simple autosomal recessive inheritance of the syndrome was reconfirmed. Treatment with thyroxine was found to be effective in controlling the thyroid related problems by compensating for the hormonal deficiency (JPMA 32:240, 1982).