METHODS: A 63-year-old Japanese woman was transferred to our medical facility for the evaluation of bilateral adrenal hypertrophy, which was incidentally discovered during an abdominal examination after cholecystectomy. The patient had hypokalemia and a high aldosterone/renin ratio. Her medical history included hypertension and right intracerebral capsular hemorrhage at the age of 30 years. Additional testing revealed low cortisol, high adrenocorticotropic hormone, and low testosterone and dehydroepiandrosterone sulfate, indicating congenital adrenal hyperplasia. Genetic analysis revealed a mutation in the CYP17A1 gene and a karyotype of 46, XY; hence, she was diagnosed with 17OHD.
CONCLUSIONS: 17OHD can resemble PA. The combination of a high ARR and low cortisol level should trigger the consideration of 17OHD.
方法:一名63岁的日本妇女被转移到我们的医疗机构进行双侧肾上腺肥大的评估,这是在胆囊切除术后的腹部检查中偶然发现的。患者患有低钾血症和高醛固酮/肾素比率。她的病史包括30岁时的高血压和右侧脑包膜出血。额外的测试显示皮质醇低,高促肾上腺皮质激素,低睾酮和硫酸脱氢表雄酮,提示先天性肾上腺增生。遗传分析显示CYP17A1基因突变和46,XY的核型;因此,她被诊断出患有17OHD。
结论:17OHD可以类似于PA。高ARR和低皮质醇水平的组合应触发17OHD的考虑。