THYROID-HORMONE RESISTANCE

Three patients with thyroid hormone resistance are described. One now adult woman has become independent of substitution, and her sometimes exceedingly high fT4 and TSH concentration have been normalizing spont aneously after the end of puberty. One boy found in the newborn screen ing with primary hypothyroidism has, additionally, a central thyroid h ormone resistance. He is doing well under normal substitution doses. O ne boy with high TSH and thyroid hormone levels at the age of 20 month s has a moderate mental retardation and, in addition, amblyopia with n ystagmus. His mother with the same hormone constellation has been oper ated several times because of relapsing goiter. Thyroid hormone resist ance is a inhomogenous disease as far as localization of the defect at the cellular level, clinical appearance, and treatment are concerned.