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为研究 2 1 羟化酶缺乏症的临床特征 ,提高对本病的诊治水平 ,作者对 16例患者进行了回顾性分析。结果显示 ,16例患者中男性 1例 ,表现为阴茎增大 ;女性 15例 ,外生殖器不同程度男性化 ,伴色素沉着 (66 7% )、多毛 (60 % )、原发闭经 (4 0 % ) ;均无失盐表现。化验检查显示 ,血ACTH、2 4h尿 17 KS、17 KGS显著升高 ,中剂量地塞米松抑制试验均阳性。 15例患者给予糖皮质激素替代治疗 ,1例诊断明确后出院 ;12例女性患者行外阴矫形术。提示 2 1 羟化酶缺乏症在诊断、治疗上仍被人们认识不足 ,应予以重视
In order to study the clinical features of 21 hydroxylase deficiency and improve the diagnosis and treatment of this disease, the authors conducted a retrospective analysis of 16 patients. The results showed that male was found in 1 case in 16 cases, with penile enlargement. There were 15 females, male genitalia with varying degrees of masculinity, hyperpigmentation (66.7%), hirsutism (60%), primary amenorrhea ); No loss of salt performance. Laboratory tests showed that blood ACTH, 24 h urinary 17 KS, 17 KGS significantly increased, mid-dose dexamethasone inhibition test were positive. Fifteen patients were given glucocorticoid replacement therapy, one was diagnosed and discharged; 12 female patients underwent genital orthopedic surgery. Prompt 2 1 hydroxylase deficiency in the diagnosis, treatment is still not recognized enough, should be taken seriously