Pozzan G B, Rigon F, Girelli M E, Rubello D, Busnardo B, Baccichetti C
Department of Pediatrics, University of Padua, Italy.
Am J Med Genet Suppl. 1990;7:57-8. doi: 10.1002/ajmg.1320370709.
We investigated thyroid function of 108 home-reared Down syndrome (DS) patients. Five had overt hypothyroidism, 2 were hyperthyroid, and 33 had high TSH values with an exaggerated response to TRH test despite hormone levels in the normal range. This finding indicated subclinical hypothyroidism. Antithyroid antibodies (antimicrosome and antithyroglobulin) were present in 13 patients. At the same time we investigated 73 parents: only one mother was hypothyroid and antithyroid autoantibodies were found in only 8% of Down syndrome parents.
我们对108名在家抚养的唐氏综合征（DS）患者的甲状腺功能进行了调查。5名患者有明显的甲状腺功能减退，2名患者甲状腺功能亢进，33名患者促甲状腺激素（TSH）值较高，尽管激素水平在正常范围内，但对促甲状腺激素释放激素（TRH）试验的反应过度。这一发现表明存在亚临床甲状腺功能减退。13名患者存在抗甲状腺抗体（抗微粒体和抗甲状腺球蛋白）。同时，我们对73名家长进行了调查：只有一位母亲甲状腺功能减退，在唐氏综合征患者的家长中，只有8%发现有抗甲状腺自身抗体。
