Hosojima H, Kigoshi T, Yamamoto I, Uchida K, Morimoto S
Nihon Naibunpi Gakkai Zasshi. 1983 Sep 20;59(9):1213-8. doi: 10.1507/endocrine1927.59.9_1213.
Partial thyroxine-binding globulin (TBG) deficiency in a family is described. A 43-year-old male was admitted because of the association of low thyroxine level but markedly elevated triiodothyronine resin-uptake despite his complaints of palpitation and excessive sweating. TBG was low (6 micrograms/ml) by radioimmunoassay. His free thyroxine level was normal. 123I uptake at 24 hours was normal and was suppressed following oral administration of triiodothyronine. Serum TSH level was normal and responded normally to TRH stimulation. Similar low level (6 micrograms/ml) in TBG was found in his elder brother who had no complaints. Another brother and 3 sisters had normal TBG levels. According to the classification of the TBG deficiency proposed by Barbosa et al., a family described here is considered to have the type II TBG deficiency which shows a much lower TBG level in male than in female with X-linked inheritance.
本文描述了一个家族中的部分甲状腺素结合球蛋白(TBG)缺乏症。一名43岁男性因甲状腺素水平低但三碘甲状腺原氨酸树脂摄取量显著升高而入院,尽管他有心悸和多汗的症状。通过放射免疫测定法,TBG水平较低(6微克/毫升)。他的游离甲状腺素水平正常。24小时123I摄取正常,口服三碘甲状腺原氨酸后被抑制。血清促甲状腺激素(TSH)水平正常,对促甲状腺激素释放激素(TRH)刺激反应正常。在他没有任何症状的哥哥中也发现了类似的低水平TBG(6微克/毫升)。另一个哥哥和三个姐姐的TBG水平正常。根据Barbosa等人提出的TBG缺乏症分类,本文描述的家族被认为患有II型TBG缺乏症,其在男性中表现出比女性低得多的TBG水平,具有X连锁遗传。