Czernichow P, Lenoir G, Roy M P, Rappaport R, Broyer M
Arch Fr Pediatr. 1978 Nov;35(9):930-8.
Thyroid function was assessed in 15 children with cystinosis and it was abnormal in 12. Three of these children were clearly hypothyroid and in the other 9 there were abnormalities of TSH or in the response to TRF. Compensated hypothyroidism is frequent in cystinosis and may be one factor in the severe growth retardation in this condition. The preliminary results of replacement therapy support this hypothesis.
对15名胱氨酸病患儿的甲状腺功能进行了评估，其中12名患儿的甲状腺功能异常。这些患儿中有3名明显甲状腺功能减退，另外9名患儿的促甲状腺激素（TSH）或对促甲状腺激素释放因子（TRF）的反应存在异常。代偿性甲状腺功能减退在胱氨酸病中很常见，可能是导致这种疾病严重生长发育迟缓的因素之一。替代疗法的初步结果支持这一假设。
