Department of Pediatrics, Kalawati Saran children's Hospital and Lady Hardinge Medical College, New Delhi 110001, India.
Indian J Pediatr. 2012 Jul;79(7):891-5. doi: 10.1007/s12098-011-0678-4. Epub 2012 Jan 12.
To determine the frequency of undiagnosed congenital hypothyroidism (CH) and its manifestations in hypothyroid children presenting beyond 5 y of age.
Retrospective analysis of records of children with hypothyroidism more than 5 y of age at presentation between October 1997 and April 2010.
Three hundred twenty children were diagnosed with hypothyroidism. Ninety-four (29.3%) were ≥5 y at presentation. Of these, CH was diagnosed in 34 (36.1%) and acquired hypothyroidism (AH) in 60 (63.9%). Symptoms of CH were noted at a mean age of 35.3±25.9 mo (range 12-132 mo) while the mean age at presentation was 86.6±35.3 mo (range 60-216 mo). The mean interval between onset of symptoms and diagnosis was nearly 51 mo. The mean duration of symptoms before diagnosis in children with AH was significantly shorter (8 mo, p<0.001). The main presenting complaints in children with CH and AH were growth delay (100%) and thyroid swelling (65%) respectively. Mean fT4 values in CH and AH at presentation were 0.23 and 0.34 ng/dL respectively (p=0.019). Children with CH had significantly higher TSH values (377.4 mIU/L) as compared to those with AH (151.4 mIU/L) (p=0.002) and had significantly delayed bone age (mean difference in chronological age and bone age 4.9 y in CH vs. 2.0 y in AH, p<0.01). Most common cause of CH in this group was thyroid dysgenesis (51.8%), followed by agenesis (25.9%) and dyshormonogenesis (22.2%).
In absence of a universal screening program, diagnosis of CH, an important cause of preventable mental retardation is often delayed in India.
确定 5 岁以上就诊的甲状腺功能减退症（CH）患儿中未确诊的 CH 及其表现的频率。
对 1997 年 10 月至 2010 年 4 月间就诊时年龄超过 5 岁的甲状腺功能减退症患儿的记录进行回顾性分析。
共诊断出 320 例甲状腺功能减退症患儿，其中 94 例（29.3%）就诊时年龄≥5 岁。这些患儿中，34 例（36.1%）为 CH，60 例（63.9%）为获得性甲状腺功能减退症（AH）。CH 的症状平均出现在 35.3±25.9 月龄（12-132 月龄），就诊时平均年龄为 86.6±35.3 月龄（60-216 月龄）。症状出现到诊断的平均间隔时间近 51 个月。AH 患儿在确诊前症状持续时间明显较短（8 个月，p<0.001）。CH 和 AH 患儿的主要就诊主诉分别为生长迟缓（100%）和甲状腺肿大（65%）。CH 和 AH 患儿就诊时的平均游离 T4 值分别为 0.23 和 0.34ng/dL（p=0.019）。与 AH 患儿（151.4mIU/L）相比，CH 患儿的 TSH 值（377.4mIU/L）显著更高（p=0.002），且骨龄明显延迟（CH 组与实际年龄的平均差异为 4.9 岁，AH 组为 2.0 岁，p<0.01）。该组中 CH 的最常见病因是甲状腺发育不良（51.8%），其次是无甲状腺（25.9%）和激素生成障碍（22.2%）。
在没有普遍筛查计划的情况下，CH 这种重要的可预防智力障碍的病因在印度常常被延误诊断。
