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作者报告1例原发性先天性甲状腺功能低下的假阴性结果。 患儿为单羊膜孪生儿中的一个,女性,出生后2周曾对她及其孪生姐妹进行甲状腺功能低下评分筛选,结果均正常(TSH低于10mU/L)。在出生5个月以前,患儿双亲及精神科医生未发现其有异常表现。但在5个月后,本文报告病例出现嗜睡、巨舌、粘液性水肿、严重生长停滞以及智力和运动功能障碍。初步诊断为原发性甲状腺功能低下。 实验室检查:血浆游离甲状腺素0.1ng/dl;TSH为320mU/L。甲状腺不能触及,用闪烁法技
The authors report a false negative result of primary congenital hypothyroidism. The children were single amniotic twins, and women, who had screened for hypothyroidism for her and her twin sisters 2 weeks after birth, were normal (TSH less than 10 mU / L). Five months before birth, both parents and psychiatrists did not find any abnormalities. However, five months later, the report reported cases of lethargy, giant tongue, myxedema, severe growth arrest, and mental and motor dysfunction. Initial diagnosis of primary hypothyroidism. Laboratory tests: plasma free thyroxine 0.1ng / dl; TSH 320mU / L. Thyroid can not touch, using scintigraphy