目的 探讨并总结17α-羟化酶缺乏症的诊断及治疗。方法 回顾性分析2015年11月至2023年2月儿童内分泌遗传代谢科收治的来自3个家系共5例17α-羟化酶缺乏症（17OHD）病例的临床资料，并复习相关文献。结果 5例患儿均存在高血压、低血钾及性激素水平低下，4例无第二性征发育，2例46，XY患儿行性腺活检+双侧睾丸切除术，术后性腺病理结果为发育不良的睾丸。基因分析结果提示3例为CPY17A1基因c. 985_987delinsAA纯合突变，另2例为CPY17A1基因c.785T>G与c.1193C>T复合杂合突变。5例患儿经糖皮质激素治疗，低血钾和高血压均得到控制。结论 早期识别与诊断17α-羟化酶缺乏症，及时予糖皮质激素替代治疗，可获得满意的疗效，提高患儿生活质量。基因测序有助于明确该罕见病的分子学诊断。

Objective To investigate and summarize the diagnosis and treatment of 17α-hydroxylase deficiency. Methods Clinical data of a total of 5 cases of 17α-hydroxylase deficiency (17OHD) from 3 families admitted to the Department of Pediatric Endocrinology and Genetic Metabolism from November 2015 to February 2023 were retrospectively analyzed, and relevant literature was reviewed. Results Hypertension, hypokalemia and low sex hormone levels were present in all 5 cases, 4 cases had no secondary sexual development, and 2 children with 46, XY underwent gonadal biopsy and bilateral orchiectomy, and postoperative gonadal pathology showed dysplasia of testis. Genetic analysis showed that 3 cases had homozygous variants of c.985_987delinsAA, which resulted in amino acid shift line mutation (p.Tyr329Lysfs*90), and the other two cases had compound heterozygous varaiants of c.785T>G and c.1193C>T. Hypokalemia and hypertension were controlled by glucocorticoid therapy. Conclusions Early recognition and diagnosis of 17α-hydroxylase deficiency and timely glucocorticoid replacement therapy can achieve a satisfactory outcome and improve the quality of life of the children. Gene sequencing helps to clarify the molecular diagnosis of this rare disease.