中文摘要：

目的分析1例经典型11β-羟化酶缺乏症患者的临床表现及其家系基因型特点。方法分析2016年3月9日诊断的1例经典型11β-羟化酶缺乏症患者的临床特征、诊疗结果、随访情况及基因测序,并结合文献进行回顾性分析。结果患者,男,29岁,发作性四肢麻痹20余年,当地医院检查发现低钾血症伴高血压,查体示身高155 cm,全身皮肤颜色较黑,自幼较同龄人生长发育迅速,8岁后身高增长不明显。CT示双侧肾上腺占位,实验室检查血浆促肾上腺皮质激素301.70 pg/mL、17-羟孕酮23.83 ng/mL、血清睾酮997.04 ng/dL、硫酸去氢表雄酮921.70μg/dL、雄烯二酮〉10.30 ng/mL、立位肾素活性1.90μIU/（mL·h）、醛固酮/肾素活性0.72。使用地塞米松0.75 mg/d（睡前服用）联合复方利血平氨苯喋啶片可有效抑制ACTH、雄激素水平及控制血压。CYP11B1基因分析示患者存在新纯合剪接突变c.595＋1G〉A,其母亲、姐姐为该突变携带者,生物学父亲未见异常。结论糖皮质激素联合利血平氨苯喋啶片可用于经典型11β-羟化酶患者治疗。基因型c.595＋1G〉A突变与经典型11β-羟化酶缺陷症有关。

英文摘要：

Objective To study the clinical features and the results of CYP11B1 gene analysis of a Chinese adult with classical 11β-hydroxylase deficiency.Methods One case diagnosed with classical 11β-hydroxylase deficiency in our department in 2016 was enrolled in this study.The clinical characteristics,diagnosis,treatment and gene analysis were reported and the related literature was reviewed.Results The male patient,29 years old,paroxysmal paralysis for more than 20 years with accelerated skeletal maturation,resultant short stature and peripheral precocious puberty.CT showed bilateral adrenal occupying lesions.Laboratory examinations found plasma ACTH 301.70 pg/mL,serum 17α-hydoxy progesterone 23.83 ng/mL,testosterone 997.04 ng/dL,dehydroepiandrosterone sulfate 921.70 g/dL,androstenedione 〉10.30 ng/mL,orthostatic renin activity 1.90 μIU/（mL·h）,aldosterone/renin activity 0.72.Dexamethasone0.75 mg/d（bedtime） combined with compound reserpine triamterene tablets was given to the patient which effectively inhibit ACTH and androgen levels and blood pressure.A novel splicing mutation c.595＋1GA was identified in CYP11B1 gene of the patient.The mutation of the patient was homozygous and his mother and sister was heterozygous,while his father was not identified with this mutation.Conclusion Glucocorticoid combined with reserpine triamterene tablets can be used in the classical 11β-hydroxylase deficiency.A novel homozygous mutation c.595＋1GA was related to the classical phenotype.