Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism.
Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism.
复制标题
患有先天性甲状腺肿和甲状腺功能减退症的两个兄弟姐妹的碘捕获机制部分缺陷。
DOI：
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发表时间：
1972
影响因子：
5.8
通讯作者：
A. Ulhoa
中科院分区：
文献类型：
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作者：
G. Medeiros;W. Bloise;A. Ulhoa
摘要1例23岁女性和1例34岁男性先天性甲状腺肿大合并甲状腺功能减退症的兄弟姐妹被转至甲状腺诊所进行评估。他们从小就服用甲状腺提取物，发育正常，但精神发育迟缓。家系中有近亲繁殖，但没有甲状腺肿病例报告。两例患者的基础代谢率均较低，PbI分别为1.0μg和2.2μg/100ml。T4-I分别为1.0μg和1.8μg/100ml，高氯酸盐试验阴性。TRC试验一再呈阴性。24小时RAI摄取分别为3.5%和6.0%，对TSH无反应。对含碘化合物的血浆层析只发现了碘和碘蛋白。在一只赛若尔中发现了T3+T4的痕迹。两例患者的血浆TSH水平均非常高。静注131I后2、4、6h的静息唾液/血浆比值分别为7.2和5.9、8.7和5.9、7.9和6.7(正常对照组为27.7~64.3)。胃液/血浆比值分别为5.2和5.0。
ABSTRACT Two siblings, a 23-yr-old woman and a 34-yr-old man, with congenital goiter and hypothyroidism were referred to the thyroid clinic for evaluation. They were on thyroid extract since early childhood and attained normal growth but were mentally retarded. Inbreedings were noted in the family pedigree but no cases of goiter were reported. The BMR was low for both patients and PBI was 1.0 μg and 2.2 μg/100 ml, respectively. T4-I was 1.0 μg and 1.8 μg/100 ml. The perchlorate test was negative. The TRC test was repeatedly negative. The RAI uptake was 3.5% and 6.0% at 24 hr with no response to TSH. Plasma chromatography of iodinated compounds disclosed only iodide and iodoproteins. Traces of T3 + T4 were present in one sairrole. Plasma TSH was very high in both patients. The resting mixed saliva/plasma ratio at 2, 4 and 6 hr after a iv dose of 131I were, respectively, 7.2 and 5.9, 8.7 and 5.9, 7.9 and 6.7 for HCR, and JFCR (normal controls: 27.7–64.3). The gastric juice/plasma ratio was 5.2 and 5.0 seven...