Squatrito S, Delange F, Trimarchi F, Lisi E, Vigneri R
J Endocrinol Invest. 1981 Jul-Sep;4(3):295-302. doi: 10.1007/BF03349447.
This work reports the presence of endemic cretinism in a small district located inside an endemic goiter area in north-eastern Sicily, personally described. The study covers 19 mental defectives (11 females and 8 males, mean age 35.8 +/- 15.5 yr) selected on the basis of severe mental retardation recognized by the local doctors. No systematic survey for cretinism was carried out in the total population. Marked mental retardation was evident in all subjects. Nine of them exhibited clinical and biochemical signs of hypothyroidism (myxedematous cretins). The 10 others were clinically euthyroid and had deaf-mutism and/or pyramidal tract dysfunction (neurological cretinism). Familial aggregation of cretinism was also observed. In both myxedematous and neurological cretins and urinary iodine excretion was very low, but not significantly different from that recorded in the euthyroid controls of the same area. The data available do not clarify the pathogenesis of endemic cretinism in Sicily. However, the marked height retardation, the observation of delayed bone maturation and the severity of mental deficiency suggest that thyroid failure was present in early life. The presence of endemic cretinism today in Sicily constitutes a strong argument in favour of the immediate introduction of adequate iodine prophylaxis.
本研究报告了西西里岛东北部地方性甲状腺肿病区内一个小区域存在地方性克汀病的情况，这是作者亲自描述的。该研究涵盖了19名智力缺陷者（11名女性和8名男性，平均年龄35.8±15.5岁），这些人是根据当地医生确认的严重智力发育迟缓挑选出来的。并未对整个人口进行系统性的克汀病调查。所有受试者均有明显的智力发育迟缓。其中9人表现出甲状腺功能减退的临床和生化体征（黏液水肿型克汀病）。另外10人临床甲状腺功能正常，但有聋哑和/或锥体束功能障碍（神经型克汀病）。还观察到克汀病的家族聚集现象。黏液水肿型和神经型克汀病患者的尿碘排泄都非常低，但与同一地区甲状腺功能正常对照组的记录值无显著差异。现有数据并未阐明西西里岛地方性克汀病的发病机制。然而，明显的身高发育迟缓、骨成熟延迟的观察结果以及智力缺陷的严重程度表明，早年存在甲状腺功能减退。如今西西里岛存在地方性克汀病，这有力地支持了立即采取适当碘预防措施的观点。
