Familial Goiter and Congenital Nerve Deafness

Abstract

Studies performed in a clinically euthyroid patient with familial goiter and congenital nerve deafness are reported. ¹³¹I uptake was rapid and reached 40% within 4 hr. Potassium thiocyanate given 1 hr after a second uptake test discharged 28% of the thyroidal ¹³¹I. Neither chromatography nor gel filtration of the gland demonstrated any triiodothyronine or thyroxine, and chemical analysis of the iodothyronine fraction from gel filtration failed to demonstrate the presence of iodine. These studies indicate defects in organification of iodide and in coupling of the iodotyrosines.