原发性皮质醇拮抗症的临床研究

CLINICAL STUDY ON PRIMARY CORTISOL RESISTANCE

文报道1例41岁自感乏力的女性患者,通过对其各类内分泌激素基础值和动态功能测定以及糖皮质激素受体分析,证实为一例原发性皮质醇拮抗症(PCR)。结合文献资料和本例观察结果,初步认为PCR具有异质性,按照受体异常的性质和程度可有不同的临床类型,并且对人工合成和天然的糖皮质激素又表现出不同的敏感性。

Primary cortisol resistance (PCR), characterized by elevated plasma cortisol level without the clinical stigmata of Cushing's syndrome, is a rare inherited disorder due to a defect in glucocorticoid receptor function. Recently, we encountered a 41-year old woman with symptoms of fatigue, pigmentation and distribution of pubic hairs in a slight masculine pattern. After baseline and function studies of hormones, as well as glucocorticoid receptor assay, we have proved that this is a case of PCR. According to the literature and the results we have observed from this patient, it is concluded that PCR is heterogeneous, and will cause various clinical types according to the property and extent of receptor abnormalities. It also presents different sensitivities to natural or synthetic glucocorticoids.