Miyai K, Endo Y, Iijima Y, Kabutomori O, Hayashizaki Y
Department of Laboratory Medicine, Osaka University Medical School, Japan.
Endocrinol Jpn. 1988 Jun;35(3):517-21. doi: 10.1507/endocrj1954.35.517.
In two patients with congenital isolated thyrotropin (TSH) deficiency, serum TSH determined by a sensitive immunoradiometric assay (IRMA) was consistently undetectable. The basal levels of serum free TSH-alpha subunit (TSH-alpha) determined by a specific radioimmunoassay (RIA) were elevated in the hypothyroid state, and decreased to the undectable level during displacement therapy with thyroid hormone. The serum free TSH-alpha significantly increased following intravenous administration of thyrotropin releasing hormone (TRH). Serum free TSH-beta subunit (TSH-beta) was undectable. These findings suggest that TSH deficiency in this disease is not due to absence of thyrotroph in the pituitary gland or deficiency of TSH-alpha, but to abnormalities of the TSH-beta gene.
在两名先天性单纯促甲状腺激素（TSH）缺乏症患者中，通过灵敏免疫放射分析（IRMA）测定的血清TSH始终无法检测到。通过特异性放射免疫分析（RIA）测定的血清游离TSH-α亚基（TSH-α）的基础水平在甲状腺功能减退状态下升高，而在用甲状腺激素替代治疗期间降至无法检测的水平。静脉注射促甲状腺激素释放激素（TRH）后，血清游离TSH-β亚基（TSH-β）显著增加。血清游离TSH-β无法检测到。这些发现表明，该疾病中的TSH缺乏并非由于垂体中促甲状腺细胞缺失或TSH-α缺乏，而是由于TSH-β基因异常。
