17α-Hydroxylase/17,20-lyase deficiency (17OHD) is caused by pathogenic mutations in CYP17A1. Impaired 17α-hydroxylase and 17,20-lyase activities typically induce hypertension, hypokalemia, sexual infantilism, and amenorrhea. Most patients with 17OHD are diagnosed in adolescence. Here, we report a female (46, XX) patient with 17OHD who was diagnosed at the age of 67 years. Genetic analysis was performed using direct DNA sequencing of polymerase chain reaction (PCR) products and multiplex ligation-dependent probe amplification (MLPA) analysis. Direct DNA sequencing revealed a homozygous c.1039C>T in CYP17A1, corresponding to a p.R347C amino acid change. MLPA probe signals showed that the CYP17A1 mutation was present in the homozygous carrier state. The patient’s dehydroepiandrosterone sulfate and androstenedione levels were extremely low, despite elevated adrenocorticotropic hormone (ACTH) and normal cortisol levels. A corticotropin-releasing hormone (CRH) test showed no response of cortisol, despite a normal response of ACTH. Rapid ACTH injection resulted in elevations in the deoxycorticosterone, corticosterone, aldosterone, and 17-hydroxypregnenolone levels, but not in the cortisol level. These results suggested that 17α-hydroxylase/17,20-lyase activities were partially impaired. Computed tomography revealed bilateral adrenal hyperplasia and a hypoplastic uterus. A high basal plasma ACTH level and a discrepancy between ACTH and cortisol responses in a CRH test may provide a definitive diagnostic clue for this disease.

17α-羟化酶/17,20-裂合酶缺乏症 (17OHD) 是由CYP17A1中的致病突变引起的。受损的 17α-羟化酶和 17,20-裂解酶活性通常会导致高血压、低钾血症、性幼稚和闭经。大多数患有 17OHD 的患者在青春期被诊断出来。在这里，我们报告了一名 17OHD 的女性 (46, XX) 患者，她在 67 岁时被诊断出。使用聚合酶链式反应 (PCR) 产物的直接 DNA 测序和多重连接依赖性探针扩增 (MLPA) 分析进行遗传分析。直接 DNA 测序揭示了 CYP17A1 中的纯合 c.1039C>T ，对应于p.R347C氨基酸变化。MLPA 探针信号显示CYP17A1突变存在于纯合携带者状态。尽管促肾上腺皮质激素 (ACTH) 升高且皮质醇水平正常，但该患者的硫酸脱氢表雄酮和雄烯二酮水平极低。尽管 ACTH 反应正常，但促肾上腺皮质激素释放激素 (CRH) 测​​试显示皮质醇没有反应。快速 ACTH 注射导致脱氧皮质酮、皮质酮、醛固酮和 17-羟基孕烯醇酮水平升高，但皮质醇水平没有升高。这些结果表明17α-羟化酶/17,20-裂合酶活性部分受损。计算机断层扫描显示双侧肾上腺增生和子宫发育不良。在 CRH 测试中，高基础血浆 ACTH 水平以及 ACTH 和皮质醇反应之间的差异可能为这种疾病提供明确的诊断线索。