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I.はじめに
Refetoff症候群は先天的な甲状腺ホルモン受容体異常による甲状腺ホルモン不応症であり,1967年Refetoffら1)により初めて報告された。その臨床所見は甲状腺腫,感音難聴,眼球振盪,Ⅹ線上点状骨端を伴った骨発育遅延とされている。私たちは甲状腺腫と感音難聴を認める一卵性双生児の姉妹を本疾患と診断した。有瀧2)らは,ホルモン学的に,その詳細を報告したが,今回私たちは,感音難聴の発現に関し,これまでの実験的報告より推論をしたのでここに報告する。
The Refetoff syndrome is a rare disease due to congenital abnormality of the thyroid hormone receptor.
The symptoms include goiter, deafness, nystagmus and retarded bone growth associated with the stippled epiplysis. Since 1967, when this syndrome was first described by Refetoff et al., only 17 cases of 7 families have been reported. This paper reports female identical 7-year-old twins with this syndrome manifesting goiter and deafness. The survey of literature revealed that only 3 cases out of 17 had hearing disturbances, so that the presented 2 cases were more typical ones.
The combination of goiter and deafness is a well-known but the etiology has remained obscure.
From the study on our cases, it is considered that the thyropathy and the hearing disorder are two different maniftations of abnormality of the same gene.
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