1例中断治疗6年的21-羟化酶缺乏型先天性肾上腺皮质增生症并文献复习  

One Case of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency with Treatment Interruption for Six Years and Literature Review

作　　者：兰天 姚辉 LAN Tian;YAO Hui(School of Medicine,Jianghan University,Wuhan 430056,Hubei,China;Department of Endocrinology and Genetic Metabolism,Wuhan Children′s Hospital,Wuhan 430015,Hubei,China)

机构地区：[1]江汉大学医学院,湖北武汉430056 [2]武汉儿童医院内分泌遗传代谢科,湖北武汉430015

出　　处：《江汉大学学报（自然科学版）》2019年第3期280-283,共4页Journal of Jianghan University：Natural Science Edition

基　　金：江汉大学2017级硕士研究生科研创新基金项目(Jhdxyjslc001)

摘　　要：目的 21-羟化酶缺乏占先天性肾上腺皮质增生症的绝大多数。患者、家属及医生对该病认识的不足常导致诊断延误和疗效欠佳。定期随访与精细的氢化可的松替代治疗在抑制肾上腺源性性激素产生的同时避免骨龄增长过快,使患者可有正常的青春期和生育能力。方法报告1 例中断治疗6 年的女性患儿,结合文献复习该病诊疗存在的不足。结果停止治疗会导致患儿男性化程度进一步加重,终身高减低,心理-社会取向趋于男性化,需尽早治疗。结论 21-羟化酶缺乏认识不足导致治疗延误的例子并不罕见,需要对先天性肾上腺皮质增生症的病人进行长期的随访检测。Objective 21- hydroxylase deficiency accounts for the majority of congenital adrenal hyperplasia. Inadequate awareness of the disease by patients,family members and doctors often leads to delayed diagnosis and poor prognosis. Regular follow-up with precise hydro-cortisone replacement therapy can depress the production of adrenal derived sex hormones and avoid rapid growth of bone age,it enables patients to have normal puberty and fertility. Methods The author reported a female had this disease with treatment interruption for six years,combining with literature review to analyse the deficiencies in diagnosis and treatment. Results Due to the discontinued treatment,the degree of virilization was further increased,the final height was shortened,and the psychosocial orientation tended to male. Thus,early treatment is needed. Conclusion Lack of awareness of 21- hydroxylase deficiency and treatment delay are not uncommon. We need long- term follow- up and check for patients with congenital adrenal hyperplasia.

关 键 词：21-羟化酶缺乏 先天性肾上腺皮质增生症 中断治疗 女性男性化 病例报道 

分 类 号：R725.8[医药卫生—儿科]