先天性肾上腺皮质增生症临床特点及转归分析

Clinical features and outcomes of patients with congenital adrenal hyperplasia

目的总结先天性肾上腺皮质增生症的临床特点及治疗转归,提高临床医师对其认识。方法对解放军总医院1988-2012年临床诊断的45例先天性肾上腺皮质增生症患者的临床资料进行回顾性分析,并对治疗转归进行随访。结果男女比例为11∶34,年龄(16.8±10.0)岁。21-羟化酶缺乏症29例,17α-羟化酶缺乏症13例,11β-羟化酶缺乏症3例。主要临床表现:21-羟化酶缺乏症女性患者为阴蒂肥大、色素沉着、男性第二性征发育、外生殖器畸形、恶心呕吐;男性为性早熟、色素沉着、恶心。17α-羟化酶缺乏症患者为高血压、男性女性化、性不发育、色素沉着。11β-羟化酶缺乏症男性患者为低血钾、高血压、性早熟、色素沉着;女性为外阴畸形、高血压及色素沉着、低血钾。确诊患者均行激素替代治疗,部分行外生殖器矫形手术,必要时行人工周期治疗。随访12例患者性征发育均得到明显改善。结论先天性肾上腺皮质增生症确诊需综合临床表现、生化指标及肾上腺CT,及早确诊及系统治疗可显著改善预后,提高生活质量。

Objective To improve the understanding of congenital adrenal hyperplasia in physicians by summarizing its clinical features and outcomes. Methods Clinical data about 45 congenital adrenal hyperplasia patients admitted to our hospital from 1988 to 2012 were retrospectively analyzed. The patients were followed up. Results Of the 45 patients at the age of 16.8± 10.0 years,11 were males and 34 were females. 21-hydroxylase deficiency was diagnosed in 29 patients, 17 α-hydroxylase deficiency in 13 patients, and 11 β-hydroxylase deficiency in 3 patients. The clinical manifestations of 21-hydroxylase deficiency were clitoral hypertrophy, pigmentation, male secondary sexual development genital malformation, sexual precocity, nausea and vomiting. The clinical manifestations of 17 α-hydroxylase deficiency were hypertension, feminization sexual infantilism, and pigmentation. The clinical manifestations of 11 β -hydroxylase deficiency were hypokalemia, hypertension, sexual precocity, pigmentation, and genital deformities. The patients received hormone replacement therapy and some patients underwent external genital organ orthomorphia, or artificial periodic therapy if necessary. Twelve patients were followed up, during which their sexual character development was significantly improved. Conclusion Congenital adrenal hyperplasia should be diagnosed according to its general clinical manifestations, biochemical indexes and adrenal CT scanning. Early diagnosis and systematic therapy can significantly improve its outcome and the life quality of congenital adrenal hyperplasia patients.