5. ホルモン受容体異常産
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Endocrine diseases due to altered hormone action in the target organ have been called "peripheral organ unresponsiveness to hormone". With the advent of research on hormone receptors in recent years, a new term, "receptor disease', has also been used to define some disorders due to peripheral organ unresponsiveness. However, the definition of receptor diseases has not yet been established. The author tentatively defines receptor disease as disorders due to (1) an abnormality in number or affinity of hormone receptors, (2) the presence of a substance which affects interaction between hormones and receptors and (3) a change in specificity of receptors. Those diseases due to possible receptor abnormality are also tentatively included in this category.<BR>Receptor diseases can be classified into several groups : <BR>(1) Diseases due to congenital abnormalities in hormone receptors. Testicular feminization syndrome and Refetoffs syndrome are well-established diseases due to lack of intracellular hormone receptors.<BR>(2) Diseases due to possible congenital abnormalities in hormone receptors. This group consists of several diseases due to peripheral organ unresponsiveness of unknown etiologies, such as pseudohypoparathyroidism, renal diabetes insipidus, congenital adrenal unresponsiveness to ACTH and Laron type dwarfism. In these diseases, congenital defect is considered to exist in either hormone receptors or subsequent biochemical reactions.<BR>(3) Diseases with altered hormone receptors through the regulatory mechanism. Elevated plasma levels of a hormone usually reduce the number of its receptors, thus inducing lowered responsiveness to the hormone. An example from this group is obesity, in which reduced number of insulin receptors is induced by elevated plasma insulin levels.<BR>(4) Diseases due to possible anti-receptor antibodies. Production of antibodies against receptors usually interferes with hormone-receptor interaction and impairs hormone action on target cells. Insulin-resistant diabetes caused by insulin receptor antibodies is an example from this group. Recent studies suggest a possible role of anti-TSH receptor antibodies in the pathogenesis of Graves' disease.<BR>(5) Abnormalities in specificity of hormone receptors. Functioning tumors of endocrine organs have often multiple hormone receptors and respond to non-physiological stimuli.
- 日本内分泌学会の論文
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- 5. ホルモン受容体異常産
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