Familial goitre with absence of thyroglobulin and synthesis of thyroid hormones from thyroidal albumin

Abstract

Two siblings, a brother (H. B.) and a sister (R. B.) with long standing goitres were investigated. Radioactive iodine uptake by the thyroid was increased and a significant portion of the plasma radioactive iodine was not extractable with butanol. Chromatography of butanol extracts of serum after radioactive iodine administration showed distinct peaks of triiodothyronine and thyroxine. Microscopic examination of the surgical specimens of the goitres showed Hurthle cell carcinoma with follicles devoid of colloid in both specimens. Sucrose density gradient centrifugation, gel filtration on Sephadex G-200, salting out procedures, starch gel electrophoresis and immunological tests of the supernatant soluble fraction of thyroid homogenates showed a lack of thyroglobulin. Further fractionation of the soluble proteins showed that albumin was apparently involved in the synthesis of thyroid hormones in the absence of thyroglobulin.