21-羟化酶缺乏症的诊断及治疗(附4例报告)

The Diagnosis and Treatment of 21-Hydroxylase Deficiency

报道4例21-羟化酶缺乏症(21-OHD),均为女性。主要特点:1.均有皮肤色素沉着、音低粗、体毛多,阴蒂肥大等男性化体征。其中1例8岁儿童生长过快,另3例成年人身材矮小。2.查染色体、血钾、钠、氯均正常。3.尿17-KS、血睾酮高于正常。4.ACTH兴奋试验尿17-KS明显升高。5.小剂量地塞米松抑制试验尿17-KS降低至正常。根据以上表现,本4例诊断21-OHD无疑。手术切除肥大阴蒂后糖皮质激素治疗疗效佳。

Four female cases of 21-hydroxylase deficiency (21-HOD) were reported-The main features: 1. All patients had manifestations of virilization such as pigmentation.low-pitched voice ,hirsutism and clitoromegaly. One case grew rapidly during childhood but was short in adult life. 2. The results of chromosomal studies were normal while the levels of serum electrolytes and blood pressure were not abnormal. 3. The leveis of 17-KS in urine and testosterone in blood were elevated in all cases. 4. The concentration of urine 17-KS was markedly high after ACTH stimulation test. 5. Through the low-dose dexamethasone suppression test,24hr urine 17-KS could be lowered to the normal level. Based upon the above clinical hallmarks, the diagnosis of 21-HOD was established. It was found that the treatment of glucocorticostercids was very effective after removing enlarged clitoris.