Pagliara A S, Caplan R H, Gundersen C B, Wickus G G, Elston A C
J Pediatr. 1983 Aug;103(2):228-32. doi: 10.1016/s0022-3476(83)80350-3.
We describe a family with thyroid hormone resistance. Juvenile Graves disease was diagnosed in the propositus, an 8-month-old boy. He was initially given propylthiouracil, and at 22 months of age underwent subtotal thyroidectomy. A diagnosis of hyperthyroidism was made in a younger sister at 3 months of age. Because of the unusual occurrence of juvenile Graves disease in two siblings, we evaluated the parents. The mother was euthyroid on physical examination and by thyroid hormone measurements. The father, although clinically euthyroid, had markedly elevated thyroid hormone values. In the three affected members, serum thyrotropin concentrations and results of thyrotropin-releasing hormone infusion tests were inappropriate for the elevated serum thyroid hormone levels. The father was given increasing doses of triiodothyronine. Complete suppression of TRH-induced TSH release did not occur until a daily dose of 300 micrograms triiodothyronine was administered. Furthermore, this large dose of T3 did not produce clinical evidence of hyperthyroidism or result in changes in his systolic ejection time intervals. This family therefore had the unusual feature of clinical heterogeneity. The two children had mainly pituitary resistance to thyroid hormone and were hyperthyroid; the euthyroid father, on the other hand, had generalized tissue resistance to thyroid hormone.
我们描述了一个患有甲状腺激素抵抗的家族。先证者是一名8个月大的男孩，被诊断为青少年型格雷夫斯病。他最初接受丙硫氧嘧啶治疗，22个月大时接受了甲状腺次全切除术。一名3个月大的妹妹被诊断为甲状腺功能亢进。由于两名同胞均出现不寻常的青少年型格雷夫斯病，我们对其父母进行了评估。母亲体格检查及甲状腺激素测量显示甲状腺功能正常。父亲虽然临床甲状腺功能正常，但甲状腺激素值明显升高。在三名受影响的家庭成员中，血清促甲状腺素浓度及促甲状腺素释放激素输注试验结果与升高的血清甲状腺激素水平不相称。给父亲逐渐增加三碘甲状腺原氨酸的剂量。直到每天给予300微克三碘甲状腺原氨酸时，促甲状腺素释放激素诱导的促甲状腺素释放才完全被抑制。此外，如此大剂量的T3并未产生甲状腺功能亢进的临床证据，也未导致其收缩期射血时间间期发生变化。因此，这个家族具有临床异质性这一不寻常的特征。两个孩子主要表现为垂体对甲状腺激素抵抗且甲状腺功能亢进；另一方面，甲状腺功能正常的父亲则表现为全身组织对甲状腺激素抵抗。
