Objective This report analyzes the clinical features, endocrine characteristics, and genetic mutations of a patient with 17α-hydroxylase deficiency (17-OHD). The patient, a 30-year-old female by social gender, was admitted for hypertension with hypokalemia and had a history of primary amenorrhea. Physical examination revealed underdeveloped secondary sexual characteristics. Laboratory tests showed hypokalemia, elevated adrenocorticotropic hormone (ACTH), and decreased cortisol and sex hormone levels. Imaging examinations revealed bilateral adrenal hyperplasia with multiple nodules. Karyotype analysis was 46, XY. Whole-exome sequencing identified compound heterozygous mutations in the cytochrome P450 17A1 (CYP17A1) gene: c.932_939del(p.Val311AspfsTer20) and c.1246C＞T(p.Arg416Cys), which were confirmed by Sanger sequencing to be inherited from the father and mother, respectively. Based on the clinical presentation, hormonal profile, and genetic findings, the patient was diagnosed with 17-OHD. Following glucocorticoid replacement therapy, blood pressure decreased and serum potassium and related hormone levels returned to normal. This case suggests that 17-OHD presents with complex clinical features, often manifesting as hypertension and hypokalemia, and is prone to misdiagnosis. For patients with concurrent developmental abnormalities, timely hormonal profiling and CYP17A1 genetic analysis are recommended to ensure accurate diagnosis, reduce diagnostic delay, and provide appropriate treatment.