21-羟化酶缺乏症的诊治探讨(附2例报告并文献复习)

THE DIAGNOSIS AND TREATMENT OF 21-HYDROXYLASE DEFICIENCY:REPORT OF TWO CASES AND REVIEW OF LITERATURE

目的探讨21-羟化酶缺乏症(21-OHD)的临床特征、诊断依据及治疗方法,减少误诊率。方法对2例21-OHD病人的临床资料进行分析,并复习相关文献。结果 2例均为女性,均有肤色黑和不同程度男性化表现,促肾上腺皮质激素(ACTH)、睾酮水平偏高。1例为非经典型,1例为单纯男性化型。结论根据实验室检查结果结合临床表现可明确诊断,长期应用激素替代治疗可取得较好的治疗效果。

Objective To investigate the clinical manifestations, diagnosis and treatment of 21-hydroxylase deficiency （21-OHD）, so as to decrease its misdiagnosis rate. Methods The clinical data of two 21-OHD patients were analyzed, and literature concerned reviewed. Results Two were female, also found black of skin color and varying degrees of virilizing manifestation, the levels of adrenocorticotrophic hormone （ACTH） and testosterone were a little bit higher. One was non-classic, one was simple virilizing type. Conclusion Based on laboratory examinations and clinical manifestations, the diagnosis of this condition can be confirmed, and a better treatment effectiveness can be obtained by long-term hormone replacement therapy.