Savoie J C, Baulieu J L, Savoie F, Leger F A, Piette C, Sebaoun J
Ann Endocrinol (Paris). 1979 Jan-Feb;40(1):55-6.
In a 27 years old patient an iodotyrosine deiodinase defect was responsible for a profound hypothyroidism (T4-RIA: indetectable -- TSH: 190 microU/ml) associated with a large goiter (about 300 g). MIT and DIT secretions were measured from the urinary cumulative specific activities, and the molar MIT/DIT ratio was 2.2. The thyroidal iodine exchangeable pool was as low as 177 micrograms. In two comparable patients rendered euthyroid by Lipodol injection, total thyroidal 127I pool was around 40 mg and the MIT/DIT ratio was degraded to 7 suggesting a mild biosynthetic defect by iodine excess.
在一名27岁患者中，碘酪氨酸脱碘酶缺陷导致了严重的甲状腺功能减退（T4-RIA：检测不到——TSH：190微单位/毫升），并伴有巨大甲状腺肿（约300克）。通过尿累积比活度测定MIT和DIT分泌，摩尔MIT/DIT比值为2.2。甲状腺碘可交换池低至177微克。在另外两名通过注射Lipodol使甲状腺功能正常的类似患者中，甲状腺总127I池约为40毫克，MIT/DIT比值降至7，提示碘过量导致轻度生物合成缺陷。
