Autoimmune thyroid disease in children with mongolism

Abstract

Three girls with mongolism associated with thyroid disorder are reported. One child had hyperthyroidism, and the other two had acquired hypothyroidism. One of the latter had precocious menstrual bleeding at the age of 9 1/2 years. Chromosome analysis showed regular trisomy-21 in both children with hypothyroidism, and thyroid antibodies were present in both the mothers and the children. The child with hyperthyroidism had D/G translocation trisomy, and thyroid antibodies were present in her serum, whereas the mother who was D/G translocation carrier was seronegative. A total of 11 children including the present cases, have been reported with the combination of mongolism and hyperthyroidism. The association with hypothyroidism has been reported in 12 children, and only 2 of them had congenital hypothyroidism. There is growing evidence to support the suggestion that there is an association between mongolism and thyroid autoimmune disease.