21-羟化酶缺乏症16例临床分析

为研究21－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（40％）；均无失盐表现。化验检查显示，血ACTH、24h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21－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。

CLINICAL ANALYSIS ON 16 CASES OF 21- HYDROXYLASE DEFICIENCY

To analyze the clinical characteristics of 21 hydroxylase deficiency and to improve its diagnosis and treatment, medical records of 16 in patients with 21 hydroxylase deficiency were carefully and retrospectively reviewed. The results showed that of the 16 cases, 1 was male with increased penile size, but no testicular enlargement. 15 were females with masculinized external genitalia to varying degrees even chordee in some cases, pigmentation (66 7%), hirsutism (60%), and ovarian dysfunction(40%). Laboratory tests showed elevated levels of serum ACTH, 24 hour urinary 17 KS, 17 KGS, and the results of medium dose dexamethasone suppression test were all positive. Fifteen cases received glucocorticoid replacement therapy and 12 female cases received corrective surgery. It is suggested that 21 hydroxylase deficiency, at present, still remains to be an underdiagnosed and undertreated disorder, therefore, more attention should be paid to it for improving the accuracy of diagnosis and adequacy of treatment.