Li Jian, Lu Yangguang
Department of Nephrology, Wenling TCM Hospital Affiliated to Zhejiang Chinese Medical University (Wenling Hospital of Traditional Chinese Medicine), Taizhou, Zhejiang Province, China.
The First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, Zhejiang Province, China.
Medicine (Baltimore). 2025 Jul 25;104(30):e43467. doi: 10.1097/MD.0000000000043467.
17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare autosomal recessive disorder that accounts for only 1% of all congenital adrenal hyperplasia. It has a high rate of misdiagnosis and mistreatment. However, the cases of repeated misdiagnosis and 3 times of mistreatment are extremely rare, which has important significance in medical education.
In this report, a 54-year-old female patient was transferred to the renal department due to proteinuria on physical examination. Enhanced adrenal computed tomography showed right adrenal hyperplasia with multiple nodules, likely adenoma. Blood tests showed low levels of renin, cortisol, estradiol, and androgens, and elevated levels of adrenocorticotropin. Uterine ultrasound indicated a rudimentary uterus. Genetic testing identified heterozygous variants of C.118A>T and C.316T>C in the CYP17A1 gene.
After revising the diagnosis of primary amenorrhea, adrenal adenoma, and chronic nephritis, 17OHD was finally confirmed.
The patient received maintenance treatment with hydrocortisone (10 mg at 6 am and 10 mg at 2 pm).
Postreatment, blood pressure, potassium levels, and urine protein normalized, with stable cortisol levels.
This case illustrates the importance of early and correct diagnosis of 17OHD through the patient's tortuous medical experience, and all treatments should be very cautious before the accurate diagnosis of 17OHD. The possibility of 17OHD should be considered in patients with hypertension, hypokalemia, and insufficient puberty. When adult 17OHD patients cannot tolerate long-acting glucocorticoids, they can be replaced with hydrocortisone therapy.
17α-羟化酶/17,20裂解酶缺乏症（17OHD）是一种罕见的常染色体隐性疾病，仅占所有先天性肾上腺增生症的1%。其误诊和误治率较高。然而，反复误诊且经历3次误治的病例极为罕见，在医学教育方面具有重要意义。
在本报告中，一名54岁女性患者因体检发现蛋白尿而转入肾内科。肾上腺增强计算机断层扫描显示右侧肾上腺增生并伴有多个结节，可能为腺瘤。血液检查显示肾素、皮质醇、雌二醇和雄激素水平较低，促肾上腺皮质激素水平升高。子宫超声检查显示子宫发育不全。基因检测确定CYP17A1基因存在C.118A>T和C.316T>C的杂合变异。
在修正原发性闭经、肾上腺腺瘤和慢性肾炎的诊断后，最终确诊为17OHD。
患者接受氢化可的松维持治疗（上午6点10毫克，下午2点10毫克）。
治疗后，血压、血钾水平和尿蛋白恢复正常，皮质醇水平稳定。
该病例通过患者曲折的就医经历说明了早期正确诊断17OHD的重要性，在准确诊断17OHD之前，所有治疗都应非常谨慎。对于高血压、低钾血症和青春期发育不全的患者，应考虑17OHD的可能性。当成年17OHD患者不能耐受长效糖皮质激素时，可用氢化可的松替代治疗。
