17α-羟化酶缺陷症的九例临床分析

Clinical Analysis for 9 Patients with 17α-Hydroxylase Deficiency

目的分析17α-羟化酶缺陷症患者的临床特点,提高对该病的诊治水平。方法收集9例患者的临床和实验室及影像学检查资料,分析其特点。结果9例患者均存在高血压、低血钾,8例年龄大于12岁者均缺乏青春期性腺发育;激素测定示血、尿皮质醇水平低于正常,促肾上腺皮质激素反馈性增高;性激素明显低于正常,而促性腺激素增高。多数患者血浆肾素活性受到抑制,醛固酮水平正常。多数患者应用糖皮质激素治疗后可使血压、血钾正常。8例患者行肾上腺CT检查提示有双侧肾上腺增生。结论对于青春期或逾青春期女性第二性征不发育的患者,特别是当合并有高血压、低血钾时应注意该病的鉴别诊断。

Objective To analyze the clinical characteristics of 17α-hydroxylase deficiency and to improve the recognition of diagnosis and treatment of this disease.Methods The clinical and laboratory data of 9 patients with 17α-hydroxylase deficiency were described and analyzed retrospectively.Results All of the 9 patients of 17α-hydroxylase deficiency presented with hypertension and hypokalemia.The patients all presented primary amenorrhea and absented secondary sexual character excepted for the more than 12 years old patient.The plasma ACTH levels were elevated,and the levels of cortisol were less than the normal.The levels of estradiol and testosterone were decreased,and the follcie-stimulating hormone and luteinizing hormone were elevated.The plasma renin activity were depressed and the levels of aldosterone were normal in most patients.CT scan showed adrenal hyperplasia in 8 of all patients.Small doses of dexamethasone or hydrocortisone could achieve good control of hypertension and correct hypokalemia.Conclusions In clinical work it is necessary to pay more attention to the recognition of 17α-hydroxylase deficiency.