17α-hydroxylase deficiency (17-OHD) is a rare type of congenital adrenal hyperplasia (CAH), accounting for about 1% of CAH cases, with an incidence rate of 1∶50 000. This article reports on a patient with suspected 17-OHD. A gene mutation in the steroidogenic enzyme gene, CYP17A1, was identified through exome sequencing. Combined with clinical manifestations, physical examination, adrenal gland and gonadal function tests, the final diagnosis of which was CAH, and standardized treatment was provided. Therefore, based on this case, the identification and diagnosis of 17-OHD are reviewed and summarized, in order to improve clinical understanding of the disease, thereby helping to improve the clinical standardization of diagnosis and treatment of 17-OHD, which is 17-OHD, as well as providing more reference materials for the diagnosis and treatment of this disease.

17α-羟化酶缺乏症（17-OHD）是先天性肾上腺皮质增生症（CAH）中的一种罕见类型，约占CAH的1%，其患病率为1∶50 000。本文报道了1例疑似17-OHD患者，通过外显子测序鉴定了1个类固醇生成酶基因CYP17A1的基因突变，结合临床表现、体格检查、肾上腺和性腺功能检查等，最终将其明确诊断为CAH并给予规范治疗。故结合该病例，本文回顾总结了17-OHD的鉴别和诊断，以期提高临床对该病的认识，促进临床对17-OHD的规范诊治，为17-OHD的诊断和治疗提供更多的参考资料。