Bercu B B, Orloff S, Schulman J D
J Clin Endocrinol Metab. 1980 Dec;51(6):1262-8. doi: 10.1210/jcem-51-6-1262.
Eleven children with nephropathic cystinosis without clinical features of hyperthyroidism or hypothyroidism had elevated serum levels of immunoreactive TSH. The mean TSH level (+/- SE) was 37.4 +/- 12.3 microM/ml. Serial determinations of thyroid function during 1 yr were: mean (+/- SE) serum T4, 10.8 +/- 0.7 microgram/dl; free T4, 2.1 +/- 0.2 ng/dl; and T3, 239 +/- 6 ng/dl. After 500 microgram TRH iv, the peak TSH level exceeded 100 microU/ml in 6 of 10 patients, whereas T3 responses were variable. Studies of parameters influenced by thyroid hormone, including red cell sodium content, serum cholesterol, and 24-h urinary hydroxylysine excretion, were consistent with euthyroidism. On the other hand, the mean pulse wave arrival time was significantly reduced, consistent with hyperthyroidism. Three control patients, 2 with Lowe's syndrome and 1 with benign cystinosis, had normal thyroid studies. Eight of the patients were given either exogenous L-T4 or T3 in doses which were increased at weekly intervals. The serum TSH concentrations were suppressed to normal only after elevation of serum levels of thyroid hormones and with high exogenous thyroid replacement doses. The data suggest abnormal pituitary resistance to feedback by thyroid hormone in patients with cystinosis. We believe this to be the first description of the association of a heritable metabolic disease with such pituitary resistance.
11名患有肾病型胱氨酸病且无甲状腺功能亢进或减退临床特征的儿童，其血清免疫反应性促甲状腺激素（TSH）水平升高。TSH水平均值（±标准误）为37.4±12.3微摩尔/毫升。1年内对甲状腺功能进行的系列测定结果为：血清总甲状腺素（T4）均值（±标准误）为10.8±0.7微克/分升；游离T4为2.1±0.2纳克/分升；三碘甲状腺原氨酸（T3）为239±6纳克/分升。10名患者中有6名静脉注射500微克促甲状腺激素释放激素（TRH）后，TSH峰值水平超过100微单位/毫升，而T3反应则各不相同。对受甲状腺激素影响的参数进行的研究，包括红细胞钠含量、血清胆固醇和24小时尿羟赖氨酸排泄量，均与甲状腺功能正常相符。另一方面，平均脉搏波传导时间显著缩短，与甲状腺功能亢进相符。3名对照患者，2名患有劳氏综合征，1名患有良性胱氨酸病，其甲状腺检查结果正常。8名患者接受了外源性左旋甲状腺素（L-T4）或T3治疗，剂量每周递增。仅在甲状腺激素水平升高且使用高剂量外源性甲状腺替代药物后，血清TSH浓度才被抑制至正常水平。数据表明，胱氨酸病患者垂体对甲状腺激素的反馈存在异常抵抗。我们认为这是首次描述一种遗传性代谢疾病与这种垂体抵抗的关联。
