Satoh Mari, Aso Keiko, Ogikubo Sayaka, Ogasawara Atsuko, Saji Tsutomu
Department of Pediatrics, Toho University Omori Medical Center, Tokyo, Japan.
Clin Pediatr Endocrinol. 2009 Oct;18(4):95-100. doi: 10.1297/cpe.18.95. Epub 2009 Nov 11.
About 30% of children with elevated TSH levels during neonatal screening have a transient form of disorder. On the other hand, it has been reported that subclinical hypothyroidism persists in late childhood in about 30% of children found to be false-positive during neonatal screening. The aim of this study was to determine whether transient thyroid dysfunction and subclinical hypothyroidism detected during neonatal screening are influenced by genetic background. The TSH receptor (TSHR), thyroid peroxidase (TPO) and dual oxidase 2 (DUOX2) genes, for which it has been reported that heterozygous defects cause neonatal transient thyroid dysfunction, were analyzed. Nine children with transient thyroid dysfunction or subclinical hypothyroidism detected during neonatal screening were studied. One child was heterozygous for a TSHR gene mutation (R450H), and another child was heterozygous for a TPO gene mutation (P883S). No children with mutation of the DUOX2 gene were identified. Genetic background may contribute to development of transient thyroid dysfunction and subclinical hypothyroidism detected during neonatal screening.
在新生儿筛查中促甲状腺激素（TSH）水平升高的儿童中，约30%患有暂时性疾病。另一方面，据报道，在新生儿筛查中被发现为假阳性的儿童中，约30%在儿童晚期持续存在亚临床甲状腺功能减退。本研究的目的是确定新生儿筛查中检测到的暂时性甲状腺功能障碍和亚临床甲状腺功能减退是否受遗传背景影响。对促甲状腺激素受体（TSHR）、甲状腺过氧化物酶（TPO）和双氧化酶2（DUOX2）基因进行了分析，据报道，这些基因的杂合缺陷会导致新生儿暂时性甲状腺功能障碍。对9名在新生儿筛查中检测到暂时性甲状腺功能障碍或亚临床甲状腺功能减退的儿童进行了研究。一名儿童TSHR基因突变（R450H）为杂合子，另一名儿童TPO基因突变（P883S）为杂合子。未发现DUOX2基因突变的儿童。遗传背景可能有助于新生儿筛查中检测到的暂时性甲状腺功能障碍和亚临床甲状腺功能减退的发生。
