Rajatanavin R, Chailurkit L, Winichakoon P, Mahachoklertwattana P, Soranasataporn S, Wacharasin R, Chaisongkram V, Amatyakul P, Wanarata L
Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Eur J Endocrinol. 1997 Oct;137(4):349-55. doi: 10.1530/eje.0.1370349.
Endemic cretinism has been classified into neurological and myxedematous types. Profound mental deficiency, deaf-mutism and cerebral diplegia are predominantly found in the former. The latter have been described as less mentally retarded but with severe growth retardation and myxedematous features. The pathogenesis of different clinical types of endemic cretinism is still unclear. Recently, a unifying hypothesis suggested that iodine deficiency, severe enough to cause maternal and fetal hypothyroxinemia, results in neurological defects in all cretins. We conducted the present study in northern Thailand to determine the validity of this hypothesis in another geographical area. The study consisted of a multidisciplinary survey on 112 endemic cretins aged 2-66 years in Nan. They were categorized clinically into three types of endemic cretins, neurological (n = 57), myxedematous (n = 19) and mixed form (n = 36). The subjects were generally short and the majority had severe mental retardation (mean intellectual quotient (I.Q.) 30.8 +/- 8.8), psychomotor defect and profound sensorineural hearing loss. The I.Q. score and proportion of cretins with sensorineural hearing loss and psychomotor defect were similar among the three types of cretins. The most frequent neurological abnormalities were spasticity, hyper-reflexia, the presence of primitive reflexes and gait disturbance. These abnormalities were distributed equally among the three types of endemic cretins. Delayed skeletal maturation and abnormal epiphysis were also present in all types of cretins. However, myxedematous cretins were shorter (P < 0.01), having more myxedematous features (P < 0.05 to P < 0.001) and less sexual maturation (P < 0.05). Thyroid volume was lower in cretins with hypothyroidism (P < 0.01). In conclusion, our findings support the hypothesis that neurological features are present in all types of cretins, and are the consequence of maternal and fetal hypothyroxinemia due to severe iodine deficiency. The clinical manifestations of the cretins were subsequently modified by the length and severity of postnatal iodine deficiency and hypothyroidism.
地方性克汀病已被分为神经型和黏液水肿型。前者主要表现为严重智力缺陷、聋哑和脑性瘫痪。后者据描述智力发育迟缓程度较轻，但有严重生长发育迟缓及黏液水肿特征。不同临床类型的地方性克汀病的发病机制仍不清楚。最近，一个统一的假说认为，严重到足以导致母婴甲状腺素血症的碘缺乏会导致所有克汀病患者出现神经缺陷。我们在泰国北部开展了本研究，以确定该假说在另一个地理区域的有效性。该研究包括对难府112名年龄在2至66岁的地方性克汀病患者进行的多学科调查。他们在临床上被分为三种类型的地方性克汀病：神经型（n = 57）、黏液水肿型（n = 19）和混合型（n = 36）。这些受试者普遍身材矮小，大多数有严重智力发育迟缓（平均智商（I.Q.）30.8 +/- 8.8）、精神运动缺陷和严重感音神经性听力损失。三种类型的克汀病患者的智商得分以及有感音神经性听力损失和精神运动缺陷的克汀病患者比例相似。最常见的神经异常是痉挛、反射亢进、原始反射存在和步态障碍。这些异常在三种类型的地方性克汀病中分布均匀。所有类型的克汀病患者均存在骨骼成熟延迟和骨骺异常。然而，黏液水肿型克汀病患者身材更矮（P < 0.01），黏液水肿特征更明显（P < 0.05至P < 0.001），性成熟程度更低（P < 0.05）。甲状腺功能减退的克汀病患者甲状腺体积较小（P < 0.01）。总之，我们的研究结果支持以下假说：所有类型的克汀病患者都有神经特征，这是严重碘缺乏导致母婴甲状腺素血症的结果。克汀病患者的临床表现随后因出生后碘缺乏和甲状腺功能减退的持续时间及严重程度而有所改变。
