月经稀发-多毛-不孕:浅谈非经典型21-羟化酶缺乏症临诊应对  

Irregular Menstruation-Hirsutism-Infertility:Clinical Management of Non-ClassicCongenital Adrenal Hyperplasia

作　　者：聂智梅 窦建新 杜锦[1] 谷伟军[1] 吕朝晖[1] 窦京涛[1] 母义明[1] NIE Zhimei;DOU Jianxin;DU Jin;GU Weijun;LYU Zhaohui;DOU Jingtao;MU Yiming(Department of Endocrinology,the First Medical Center of Chinese PLA General Hospital,Beijing 100853,China;Department of Endocrinology,Weifang People's Hospital in Shandong Province,Weifang 261041,China)

机构地区：[1]解放军总医院第一医学中心内分泌科,北京100853 [2]山东省潍坊市人民医院内分泌科,潍坊261041

出　　处：《罕见病研究》2023年第3期420-426,共7页Journal of Rare Diseases

摘　　要：患者女性,38岁,16岁时出现月经稀发、多毛,29岁时发现血清睾酮水平升高并诊断为多囊卵巢综合征,给予炔雌醇环丙孕酮片治疗,治疗期间月经恢复正常,血清睾酮水平无明显变化。38岁因婚后5年未孕,进一步检查发现血清17-羟孕酮、硫酸脱氢表雄酮水平升高,通过促肾上腺皮质激素刺激试验和基因分析最终确诊为非经典型21-羟化酶缺乏症。本病例提示患者出现月经稀发、多毛、高雄激素血症并不孕时,应警惕不典型先天性肾上腺皮质增生症。A 38-year-old female presented with irregular menstruation and hirsutism that started at age of 16 and diagnosed with polycystic ovary syndrome at age of 29 with elevated testosterone.When treated with ethinestradiol cyproterone tablets,her menstruation returned to normal and androgen levels was not changed.At age of 38 she was referred to the hospital with infertility,a diagnosis of nonclassical 21-hydroxylase deficiency was confirmed using 17-hydroxyprogesterone,dehydroepiandrosterone-sulfate,a cosyntropin-stimulation test and genetic test.This case suggested that nonclassical congenital adrenal hyperplasia should be considered when a patient is presented with oligomenorrhea,hirsutism with hyperandrogenemia and infertility.

关 键 词：非经典型21-羟化酶缺乏症 17-羟孕酮 促肾上腺皮质激素刺激试验 

分 类 号：R586[医药卫生—内分泌]