Greaves Ronda, Poomthavorn Preamrudee, Zacharin Margaret
Departments of Complex Biochemistry, The Royal Children's Hospital, Melbourne, Australia.
J Paediatr Child Health. 2006 Oct;42(10):652-4. doi: 10.1111/j.1440-1754.2006.00925.x.
A 3.5-year-old Vietnamese boy presented with precocious pseudopuberty, hypertension and a skin rash that was treated with Vietnamese medications for 6 weeks, with resolution. Serum androgen levels were prepubertal, adrenal ultrasound was normal but a large unknown abnormal peak was detected in the urine steroid profile. Cessation of medications disclosed elevation of plasma androgen and 11-deoxycortisol levels. The unidentified urine steroid profile peak disappeared and a tetrahydro-11-deoxycortisol peak was detected. This patient represents a difficult and challenging diagnosis of 11beta-hydroxylase deficiency. Careful evaluation of history and physical finding in the presence of apparent biochemistry discrepancy resulted in a correct diagnosis.
一名3.5岁的越南男孩出现性早熟、高血压和皮疹,曾使用越南药物治疗6周后症状缓解。血清雄激素水平处于青春期前,肾上腺超声检查正常,但尿液类固醇谱中检测到一个巨大的未知异常峰。停药后发现血浆雄激素和11-脱氧皮质醇水平升高。未识别的尿液类固醇谱峰消失,检测到四氢-11-脱氧皮质醇峰。该患者代表了11β-羟化酶缺乏症这一困难且具有挑战性的诊断。在存在明显生化差异的情况下,仔细评估病史和体格检查结果得出了正确诊断。