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目的 探讨染色体核型为 4 6 ,XY的 1 7α羟化酶缺乏症的诊断及治疗。方法 分析 1 985年 1月至2 0 0 2年 1 0月北京协和医院妇产科收治的 1 3例染色体核型为 4 6 ,XY的 1 7α羟化酶缺乏症病例。结果 高血压、低血钾及原发闭经 ,性激素水平低下 ,无第二性征发育为该病的临床表现 ,性腺病理结果是发育不良的睾丸。对1例患者采用PCR和DNA测序进行了SRY基因的分析 ,结果未发现缺失和突变。经糖皮质激素治疗 ,满意的控制血钾及血压后 ,手术切除双侧性腺 ,维持女性社会性别。术后继续糖皮质激素及雌激素的治疗。结论 正确及时的诊断治疗 1 7α羟化酶缺乏症 ,维持女性的社会性别 ,术后继续激素治疗 ,可获得满意的疗效。
Objective To investigate the diagnosis and treatment of chromosomal karyotype of 47, XY 1 7α hydroxylase deficiency. Methods From January 1985 to January 2002, 10 cases of 1 7α-hydroxylase deficiency with chromosome karyotype of 46 and XY in the obstetrics and gynecology department of Peking Union Medical College Hospital were analyzed. Results Hypertension, hypokalemia, primary amenorrhea, low level of sex hormones, no secondary sexual characteristics developed the clinical manifestations of the disease, gonadal pathology results are dysplastic testes. One patient was analyzed by PCR and DNA sequencing of the SRY gene, and no deletions or mutations were found. After glucocorticoid treatment, satisfactory control of serum potassium and blood pressure, surgical removal of the bilateral gonads to maintain the gender of women. Postoperative glucocorticoid and estrogen treatment. Conclusion Correct and timely diagnosis and treatment of 17α-hydroxylase deficiency, maintain female gender, continue hormone therapy after surgery, can obtain satisfactory curative effect.