Familial partial peripheral and pituitary resistance to thyroid hormone: a frequently missed diagnosis?

摘要: The diagnosis of partial peripheral and pituitary resistance to thyroid hormone was ultimately made in two boys, 7 9 years age, a 10-year-old girl who had goiters hyperthyroxinemia. boys were treated with propythiouracil and/or thyroidectomy or iodine 131 for suspected thyrotoxicosis but poorly suppressible serum thyroid-stimulating (TSH) post treatment spite the usual L-thyroxine replacement. increasing goiter size while receiving propylthiouracil, 100 mg every eight hours. These findings led reevaluation dynamics these children their families. Twelve additional family members, 3 38 compatible an autosomal dominant inheritance, also found have hormone. All affected individuals elevated thyroxine triiodothyronine levels, normal slightly resin uptakes, nonsuppressed TSH. five given thyrotropin-releasing showed exaggerated TSH responses, which normalized on therapy. Misdiagnosis six 15 members significant morbidity (hypothyroidism, delayed growth, therapy risk). A patient should lead suspicion this disorder. Appropriate management condition includes decrease normalize responses