Auchus R J, Fuqua S A
Department of Endocrinology, Wilford Hall Medical Center, Lackland AFB, TX 78236.
Semin Cell Biol. 1994 Apr;5(2):127-36. doi: 10.1006/scel.1994.1016.
Clinical syndromes of hormone resistance or independence have baffled clinicians for decades. These syndromes sometimes result from mutations or deficiencies in enzymes that activate prohormones or from alterations in signal transduction proteins. The majority of these conditions, however, arise from abnormalities of hormone receptors. We describe examples of syndromes that result from genetic mutations or misexpression of steroid/thyroid hormone receptors, with a specific emphasis on thyroid and androgen resistance syndromes, and estrogen independence in breast cancer.
激素抵抗或激素非依赖性临床综合征困扰临床医生数十年。这些综合征有时源于激活激素原的酶的突变或缺陷，或信号转导蛋白的改变。然而，这些病症大多数是由激素受体异常引起的。我们描述了因类固醇/甲状腺激素受体基因突变或错误表达导致的综合征实例，特别着重于甲状腺和雄激素抵抗综合征，以及乳腺癌中的雌激素非依赖性。
