Syndromes of thyroid hormone resistance.
Syndromes of thyroid hormone resistance.
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甲状腺激素抵抗综合征。
DOI：
10.1152/ajpendo.1982.243.2.e88
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发表时间：
1982
期刊：
影响因子：
--
通讯作者：
Refetoff,S
中科院分区：
文献类型：
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作者：
Refetoff,S
对甲状腺激素作用的抵抗可能涉及外周组织和垂体（整体抵抗），仅垂体或仅外周组织。全球耐药的严重程度不同，已在60多个个体中观察到，大多数发生在17个家庭中。受影响的受试者通常代谢正常，并患有甲状腺肿、总甲状腺素和游离甲状腺素和三碘甲状腺原氨酸的血浆水平升高、甲状腺激素代谢正常和血清TSH水平正常（尽管相应的甲状腺激素水平较高）。不同程度的延迟骨成熟，智力迟钝，学习障碍和听力缺陷已被报道;和各种各样的治疗方案，其中大部分是旨在降低血浆激素和/或甲状腺肿的水平，已尝试在正确的诊断已经达到。这种临床疾病在男性和女性中同样常见，似乎是由于一种或多种常染色体基因突变所致。激素抵抗的原因可能是异质性的，要么影响甲状腺激素的受体，要么影响激素作用中的一些未识别的步骤。目前，诊断是一个排除;没有有效的治疗方法，应避免所有旨在降低血清甲状腺激素水平的措施。
Resistance to the action of thyroid hormone can involve both peripheral tissues and the pituitary (global resistance), the pituitary only or peripheral tissues alone. Global resistance is of variable severity and has been observed in more than 60 individuals, the majority occurring in 17 families. Affected subjects are commonly eumetabolic and have goiters, elevated plasma levels of total and free thyroxine and triiodothyronine, normal thyroid hormone metabolism, and normal serum TSH levels (albeit high for the corresponding levels of thyroid hormone). A variable degree of delayed bone maturation, mental retardation, learning disabilities, and hearing defects have been reported; and a variety of treatment regimens, most of which are aimed at reducing the level of plasma hormones and/or goiter, have been attempted before the correct diagnosis has been reached. The clinical disorder is equally common in males and females and appears to be due to one or more autosomal gene mutations. The causes for the hormone resistance may be heterogeneous, either influencing the receptor for thyroid hormones or some unidentified steps in hormone action. At present, the diagnosis is one of exclusion; no effective therapy is available, and all measures designed to lower serum thyroid hormone levels should be avoided.