中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (12): 916-920.DOI: 10.19538/j.ek2024120607

• 专题笔谈 • 上一篇    下一篇

青春期21-羟化酶缺乏症用药策略

  

  1. 首都儿科研究所附属儿童医院内分泌科，北京  100020
  • 出版日期:2024-12-06 发布日期:2025-02-24
  • 通讯作者: 宋福英，电子信箱：sfy13910228956@126.com
  • 基金资助:
    首都卫生发展专项（2018-2-2101）

Drug strategy for adolescent 21 hydroxylase deficiency

  1. Department of Endocrinology，Children’s Hospital of Capital Institute of Pediatrics，Beijing  100020，China
  • Online:2024-12-06 Published:2025-02-24

摘要： 21-羟化酶缺乏症（21-hydroxylase deficiency，21-OHD）的青春期儿童药物依从性不佳且药物代谢和清除率增加，治疗难度增大。强调青春期21-OHD儿童肾上腺皮质激素的合理使用，避免糖皮质激素不足导致雄激素过高、骨骺早闭；同时避免药物过量导致药物性库欣综合征。监测青春期儿童的生长发育和生化指标，及时调整用药，及时准确发现伴发疾病，如睾丸肾上腺残余瘤等非常重要。青春期儿童是否应用生长激素、芳香化酶抑制剂，以及促性腺激素释放激素类似物的停药指征等没有指南和共识，需要个体化诊治。

关键词: 21-羟化酶缺乏症, 基因重组人生长激素, 芳香化酶抑制剂, 促性腺激素释放激素类似物

Abstract: Management of adolescents with 21-hydroxylase deficiency （21-OHD） presents unique challenges because of poor adherence to medical therapy and the increase in drug metabolismand clearance rate. Rational use of adrenocortical hormone for adolescents with 21-OHD is emphasized to avoid excessive androgen and premature closure of epiphysis caused by insufficient glucocorticoids， and to avoid drug overdose resulting in secondary Cushing syndrome.It is very important to monitor the growth and development of adolescents and biomarkers， adjust the medication in time and find the complicating diseases correctly， such as  testicular adrenal rest tumours  （TARTs）. There is no guideline or consensus on the application of growth hormones and aromatase inhibitors， and the indications for withdrawal of gonadotropin releasing hormone analogues in adolescent children， and individualized diagnosis and treatment is required. 

Key words: 21-hydroxylase deficiency, recombinant human growth hormone, aromatase inhibitors, gonadotropin releasing hormone analogues