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非经典型21-羟化酶缺陷症(21OHD)是最常见的常染色体隐性遗传病之一,但临床上可以仅表现为高雄激素血症如多毛、痤疮等皮肤症状,部分患者也可有月经紊乱及不育症等,极易漏诊误诊,而其引起的糖脂代谢紊乱等远期并发症(如代谢综合征、心血管并发症等)危害极大。基础的17-羟孕酮以及快速ACTH兴奋实验是非常好的筛查和辅助诊断手段。非经典型21OHD疾病本身治疗的花费极少,提高其诊断的准确性具有临床意义和社会经济学意义。因此,应提高对非经典型21OHD的认识,重视该症的诊治。
Non-classical 21-hydroxylase deficiency (21OHD) is one of the most common autosomal recessive disease, but can only be clinically manifested as hyperandrogenism such as hirsutism, acne and other skin symptoms, some patients may also have Menstrual disorders and infertility, easily misdiagnosed misdiagnosis, which caused by long-term complications of glucose and lipid metabolism disorders (such as metabolic syndrome, cardiovascular complications, etc.) are extremely harmful. The basal 17-hydroxyprogesterone and rapid ACTH excitation tests are excellent screening and diagnostic aids. Non-classic 21OHD disease itself costs very little treatment, to improve the accuracy of its diagnosis of clinical significance and socio-economic significance. Therefore, we should raise awareness of non-classic 21OHD, emphasis on diagnosis and treatment of the disease.