Gons M H, Kok J H, Tegelaers W H, de Vijlder J J
Acta Endocrinol (Copenh). 1983 Sep;104(1):27-34. doi: 10.1530/acta.0.1040027.
In this paper we describe methods for the early aetiological diagnosis of congenital hypothyroidism, using beside the classical T4, T3 and TSH plasma concentrations, four additional parameters in plasma and urine. The first one is thyroglobulin (Tg). In normal children of more than one year of age and in adults, 5-35 ng/ml plasma is found, in neonates 2-3 weeks old, this level is 10-250 ng/ml. In patients with a stimulated thyroid gland, as in primary congenital hypothyroidism, plasma Tg levels increase. High Tg values are found in iodine deficiency and in organification defects. In the absence of the thyroid gland plasma Tg is undetectable. Low to normal levels are found in cases with hypoplasia of the gland. In patients with a disturbed synthesis of Tg, resulting in Tg deficiency of the gland, plasma Tg levels vary from undetectable to normal. The PBI-T4 plasma difference, which is caused by circulating abnormal iodoproteins is the second parameter. The products of thyroidal breakdown processes of the abnormal iodoproteins are excreted in the urine and used as the third parameter. We found that the excretion of this low molecular weight iodinated material (LOMWIOM) was increased only in Tg-deficient patients. If the neonate is found to be hypothyroid, thyroid hormone substitution must be given immediately. Blood and urine sampling can be done just before or even directly after starting the therapy. The measurements extended with the determination of the total iodine excretion (fourth parameter) can be carried out within 1 week. With these additional methods it appeared to be possible to distinguish between several types of congenital hypothyroidism in neonates found by screening.
在本文中，我们描述了先天性甲状腺功能减退症早期病因诊断的方法，除了经典的血浆T4、T3和TSH浓度外，还使用血浆和尿液中的另外四个参数。第一个是甲状腺球蛋白（Tg）。在一岁以上的正常儿童和成人中，血浆中Tg水平为5 - 35 ng/ml，在2 - 3周大的新生儿中，该水平为10 - 250 ng/ml。在原发性先天性甲状腺功能减退症等甲状腺受刺激的患者中，血浆Tg水平会升高。在碘缺乏和有机化缺陷中会发现高Tg值。在没有甲状腺的情况下，血浆Tg无法检测到。在甲状腺发育不全的病例中发现Tg水平低至正常。在Tg合成紊乱导致腺体Tg缺乏的患者中，血浆Tg水平从无法检测到正常不等。由循环异常碘蛋白引起的PBI - T4血浆差异是第二个参数。异常碘蛋白甲状腺分解过程的产物经尿液排出，用作第三个参数。我们发现，只有在Tg缺乏的患者中，这种低分子量碘化物质（LOMWIOM）的排泄才会增加。如果发现新生儿甲状腺功能减退，必须立即给予甲状腺激素替代治疗。在开始治疗前甚至治疗后可直接进行血液和尿液采样。通过测定总碘排泄（第四个参数）进行的测量可在1周内完成。通过这些额外的方法，似乎有可能区分通过筛查发现的新生儿先天性甲状腺功能减退症的几种类型。
