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目的提高对17α羟化酶/17,20裂解酶缺陷症的认识和诊疗水平。方法回顾性分析1978年至2002年北京协和医院诊治的24例17α羟化酶/17,20裂解酶缺陷症患者的临床特点及长期随诊资料。所有患者均进行了较为完善的生化检查及相关内分泌激素测定,部分患者行骨密度测定。结果20例完全性联合缺陷症患者均存在高血压、低血钾及缺乏青春期性腺发育;测定示血、尿皮质醇水平低于正常,促肾上腺皮质激素(ACTH)反馈性增高;性激素明显低于正常,而促性腺激素增高。17例患者测定结果显示血浆肾素活性受到抑制,醛固酮水平高于正常。9例患者骨密度测定显示骨量明显低于同龄人。4例部分性联合缺陷症患者中,2例有自发月经,1例患者外生殖器呈两性畸形,1例原发闭经患者血压和血钾均正常。ACTH兴奋试验以及性激素测定的结果提示,这4例患者的肾上腺或性腺尚存在部分17α羟化酶/17,20裂解酶活性。多数患者应用小剂量地塞米松(0.1～0.375mg/d)可使血压、血钾正常。经补充性激素治疗,患者均能维持成年女性外观,但无生育功能。结论临床工作中应加强对部分性联合缺陷症的认识。患者长期规律治疗可良好控制血压及纠正低血钾。
Objective To improve the understanding and diagnosis of 17α hydroxylase / 17, 20 lyase deficiency. Methods The clinical features and long-term follow-up data of 24 patients with 17α-hydroxylase / 17,20-lyase deficiency diagnosed and treated by Peking Union Medical College Hospital from 1978 to 2002 were retrospectively analyzed. All patients underwent a more complete biochemical tests and related endocrine hormone determination, some patients underwent bone mineral density determination. Results Twenty patients with complete combined defects had hypertension, hypokalemia and lack of adolescent gonadal development. The levels of blood and urine cortisol were lower than normal, and the adrenocorticotropic hormone (ACTH) feedback was increased. The levels of sex hormones were significantly lower Normal, while gonadotropin is elevated. The results of 17 patients showed that plasma renin activity was inhibited and aldosterone levels were higher than normal. Bone mineral density measurements in 9 patients showed significantly lower bone mass than their peers. Of the 4 patients with partial joint defects, 2 had spontaneous menstruation and 1 had genital abnormalities. One patient with primary amenorrhea had normal blood pressure and serum potassium. ACTH test results and sex hormone test results suggest that these 4 patients still exist in the adrenal gland or 17α hydroxylase / 17,20 lyase activity. Most patients with low-dose dexamethasone (0.1 ~ 0.375mg / d) can make blood pressure, potassium normal. After supplemental hormone therapy, patients can maintain the appearance of adult women, but no reproductive function. Conclusion The clinical work should strengthen the understanding of partial joint defects. Long-term treatment of patients with good control of blood pressure and correct hypokalemia.