Germak J A, Foley T P
Department of Pediatrics, State University of New York, Stony Brook School of Medicine.
J Pediatr. 1990 Aug;117(2 Pt 1):211-9. doi: 10.1016/s0022-3476(05)80532-3.
We evaluated the longitudinal response in 43 infants with congenital primary hypothyroidism during the first year of L-thyroxine therapy. Diagnosis was confirmed by serum thyroid hormone measurements by 4 weeks of age in 38 infants and between 40 and 80 days of age in the remainder. This group of infants was divided by radionuclide thyroid imaging into 34 infants with thyroid dysgenesis and nine with dyshormonogenesis. The group with thyroid dysgenesis was subdivided into 21 infants with athyreosis and 13 with residual thyroid tissue (11 ectopic and 2 hypoplastic glands). L-Thyroxine therapy, at an average dose of 10 to 14 micrograms/kg/day, was begun immediately after diagnosis, and serum concentration of total thyroxine, free thyroxine, triiodothyronine, reverse triiodothyronine, and thyroid-stimulating hormone were determined serially. Serum concentration of total and of free thyroxine became normal within 1 week of the start of therapy in all groups. Despite a similarly mild degree of hypothyroidism at diagnosis observed in infants with dyshormonogenesis or with ectopia or hypoplasia, those with dyshormonogenesis had a more sensitive response to initial thyroid hormone replacement than did patients with thyroid dysgenesis, as judged by L-thyroxine does and thyroid-stimulating hormone suppression. We conclude that the prompt restoration of clinical and biochemical euthyroidism during early infancy with doses of L-thyroxine between 10 and 14 micrograms/kg/day is a safe and effective method of therapy for children with congenital hypothyroidism.
我们评估了43例先天性原发性甲状腺功能减退症婴儿在左旋甲状腺素治疗第一年的纵向反应。38例婴儿在4周龄时通过血清甲状腺激素测定确诊，其余婴儿在40至80日龄时确诊。这组婴儿通过放射性核素甲状腺显像分为34例甲状腺发育异常和9例甲状腺激素合成障碍的婴儿。甲状腺发育异常组又分为21例无甲状腺和13例有残余甲状腺组织（11例异位和2例发育不全腺体）的婴儿。诊断后立即开始左旋甲状腺素治疗，平均剂量为10至14微克/千克/天，并连续测定血清总甲状腺素、游离甲状腺素、三碘甲状腺原氨酸、反三碘甲状腺原氨酸和促甲状腺激素的浓度。所有组在治疗开始后1周内血清总甲状腺素和游离甲状腺素浓度均恢复正常。尽管在甲状腺激素合成障碍或异位或发育不全的婴儿中，诊断时观察到的甲状腺功能减退程度相似，但从左旋甲状腺素剂量和促甲状腺激素抑制情况判断，甲状腺激素合成障碍的婴儿对初始甲状腺激素替代治疗的反应比甲状腺发育异常的患者更敏感。我们得出结论，对于先天性甲状腺功能减退症儿童，在婴儿早期以10至14微克/千克/天的剂量迅速恢复临床和生化甲状腺功能正常是一种安全有效的治疗方法。
