Abstract：
BACKGROUND: 17α-hydroxylase deficiency (17OHD) is a rare autosomal recessive disorder. Aldosterone levels are usually low in patients with 17OHD. However, among the approximately 150 cases of 17OHD reported to date, aldosterone levels were not low in all cases. Therefore, some 17OHD cases may have been misdiagnosed as primary aldosteronism (PA) cases. Often before puberty, 17OHD is diagnosed because of abnormal genital morphology and menstrual irregularities. However, we report a very rare case of 17OHD in an elderly patient with a high aldosterone/renin ratio (ARR) similar to that in PA.
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.
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.
摘要：
背景：17α-羟化酶缺乏症（17OHD）是一种罕见的常染色体隐性遗传疾病。17OHD患者的醛固酮水平通常较低。然而,在迄今为止报告的大约150例17OHD病例中，醛固酮水平在所有情况下都不低。因此,约17例OHD可能被误诊为原发性醛固酮增多症(PA).通常在青春期之前，17OHD的诊断是由于生殖器形态异常和月经不调。然而,我们报告了1例罕见的17OHD患者,患者的醛固酮/肾素比值(ARR)与PA相似.
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。
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。
