Endemic cretinism in Thailand: a multidisciplinary survey.

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.

Neonatal thyrotropin profile as an index for severity of iodine deficiency and surveillance of iodine prophylactic program.

Neonatal serum thyrotropin (TSH) level has been proposed as an index for the monitoring and surveillance of an iodine prophylactic program. We have determined an effective way to put this idea into practice. During the first phase of our study, neonatal serum TSH levels were obtained from umbilical cord blood of neonates born in Chiangmai and Nan provinces, where several districts were areas of severe iodine deficiency, and were compared with those of neonates born in Bangkok, which was a control area. The median and (95% CI [confidence interval]) of serum TSH level of neonates born in Chiangmai 5.8 (5.7-5.9) microU/mL was significantly higher than in Nan 5.1 (5.0-5.2) microU/mL, and in Bangkok 3.7 (3.7-3.8) microU/mL. Neonatal serum free thyroxine (FT4) concentration in Bangkok was higher than in Nan; while the reciprocal was true for neonatal TSH concentration in randomly selected samples (FT4 1.6 [1.6-1.7] ng/dL vs. 1.5 [1.5-1.6] ng/dL and TSH 3.5 [3.3-3.9] microU/mL vs. 5.5 [5.2-5.9] microU/mL, respectively.) When odds ratio of the likelihood of having neonatal TSH level higher than in Bangkok was calculated using 95th percentile value of neonatal TSH level in Bangkok as a cut-off point, the odds ratio of TSH profile in all districts in Chiangmai and Nan were greater than unity. In the second phase of our study, data were collected from 32 district and 10 provincial hospitals. The optimum number of samples in each hospital derived from the first phase of our study was at least 178. Discrepancy between goiter rate and odds ratio of TSH profile was observed, but there was a significant correlation between the two indices (r = 0.67, p < .001). Our study confirmed the practical utility of neonatal TSH profile as a biological index for assessment and monitoring and surveillance of an iodine prophylactic program at a district hospital in a developing country.