11β-羟化酶缺陷症9例临床特征与治疗分析

目的提高对11β-羟化酶缺陷症的认识和诊疗水平。方法通过对1984—2006年北京协和医院内分泌科收治的9例(男5例,女4例)11β-羟化酶缺陷症患者临床表现、生化特征和治疗效果进行总结分析。结果2例患者的父母系近亲结婚。所有患者出生时均未出现盐皮质激素缺乏的症状。2例女性患者出现严重的假两性畸形。男性患者均出现男性假性性早熟。所有患者均有高血压。5例患者出现皮肤色素沉着。实验室检查:低钾血症66.67%(6/9),促肾上腺皮质激素(ACTH)、17α-羟孕酮(17OHP)明显升高;女性患者血睾酮(T)均明显升高;骨龄提前;5例肾上腺CT检查结果均为肾上腺增粗。糖皮质激素治疗后血钾均恢复正常,血压有不同程度的下降。结论使11β-羟化酶缺陷症的患者及早得到确诊并进行合理的治疗是十分必要的,临床上应加强对11β-羟化酶缺陷症的识别。

Clinical characteristics and treatment of 11 beta-hydroxylase deficiency - report of 9 cases and literature review

Objective To improve the diagnosis and the treatment level with 11 beta-hydroxylase deficiency,we have summarized clinical manifestation,biochemical characteristics and treatment of the patients with 11 beta-hydroxylase deficiency who were diagnosed and treated in Peking Union Medical College Hospital from 1984 to 2006.Methods Analyse the clinical manifestation,biochemical characteristics and treatment of nine patients(male 5,female 4)suffering from this disease.Results Two patients' parents were intermarriage.None of the patients presented with signs of mineralocorticoid deficiency.Two female patients appeared pseudohermaphrodite at newborn stage.All male patients presented with pseudoprecocious puberty.All patients suffered from hypertension.Five patients presented with skin pigmentation.Six had hypokalemia.Except for patient 1#,the plasma ACTH of all patients was significantly elevated.Eight patients had 17OHP records which was higher than normal range.Plasma T levels in four females were elevated.Except for patient 6 and 7 who were hospitalized at adults,the bone age of the patients was ahead.CT scan of five patients displayed adrenal hyperplasia.After glucocorticoid treatment,hypokalemia was corrected in all patients,and the blood pressure showed decrease in seven patients who had BP record.One week to forty days after treatment,five patients received measurement of ACTH,T,17OHP again,and the result was within normal range.Conclusion It is important to diagnose and to treat the patients with 11 beta-hydroxylase deficiency as soon as possible.