Winkler L, Bank S, Bremer-Hübler U, Brodehl J, Sander J
Abteilung für Pädiatrische Nieren- und Stoffwechselerkrankungen, Kinderklinik, Medizinische Hochschule Hannover.
Monatsschr Kinderheilkd. 1993 Oct;141(10):799-804.
69 children with congenital hypothyroidism, who were detected by neonatal screening in Lower Saxony, were reevaluated 1-12 years after diagnosis. They had been treated either by regional children's hospitals, local pediatricians or general practitioners. Substitution of thyroid hormone had started for the majority between day 7 and 14, for 17%, however, only later. Symptoms suggestive of hypothyroidism at birth were observed in 35 children, but only 3 cases were correctly diagnosed before the result of the screening was known. Further diagnostic tests to elucidate the cause of congenital hypothyroidism had been performed in 33 children. In 36 cases the etiology remained undiagnosed at the evaluation. Hormone therapy had been administered continuously in all cases. The somatic development of all children was normal. Bone age at the time of diagnosis was retarded in more than 50%, later it became normal in most cases. The psychomotor and intellectual development was satisfactory as assessed by psychometric tests. The mean value of the Intelligence Quotients in the children older than six years was 96.3. 5 children of this age group had an IQ below 85 and only one child had an IQ of more than 115. In the younger group the results were similar, but children younger than 4 years showed deficiencies in speech development. In summary, the somatic development of the re-examined children with congenital hypothyroidism was normal, but the psychomotor and intellectual development was only subnormal in some cases. It is therefore suggested that children with congenital hypothyroidism should be closely followed by experienced pediatricians, especially in the early years of life.
对下萨克森州通过新生儿筛查发现的69例先天性甲状腺功能减退症患儿在诊断后1至12年进行了重新评估。他们分别由地区儿童医院、当地儿科医生或全科医生进行治疗。大多数患儿在出生后第7至14天开始补充甲状腺激素,然而,17%的患儿较晚才开始补充。35例患儿在出生时出现了提示甲状腺功能减退的症状,但只有3例在筛查结果出来之前得到了正确诊断。33例患儿进行了进一步的诊断测试以明确先天性甲状腺功能减退症的病因。在评估时,36例患儿的病因仍未明确。所有患儿均持续接受激素治疗。所有患儿的体格发育均正常。诊断时超过50%的患儿骨龄延迟,大多数情况下后来骨龄恢复正常。通过心理测试评估,精神运动和智力发育情况令人满意。6岁以上儿童的智商平均值为96.3。该年龄组中有5名儿童智商低于85,只有1名儿童智商超过115。在较年幼的组中结果相似,但4岁以下儿童在语言发育方面存在缺陷。总之,重新检查的先天性甲状腺功能减退症患儿的体格发育正常,但精神运动和智力发育在某些情况下仅为低于正常水平。因此建议先天性甲状腺功能减退症患儿应由经验丰富的儿科医生密切随访,尤其是在生命的早期阶段。