育龄期21-羟化酶缺乏症误诊为多囊卵巢综合征二例并文献复习  

Two Cases of 21-Hydroxylase Deficiency in Reproductive Age Misdiagnosed as Polycystic Ovary Syndrome and Literature Review

作　　者：迟学秀 郭宝强[1] 于姗[1] 何东华[1] CHI Xue-xiu;GUO Bao-qiang;YU Shan;HE Dong-hua(The Second People′s Hospital of Liaocheng,Liaocheng 252600,Shandong Province,China)

机构地区：[1]山东省聊城市第二人民医院,252600

出　　处：《国际生殖健康／计划生育杂志》2022年第4期289-293,共5页Journal of International Reproductive Health/Family Planning

摘　　要：21-羟化酶缺乏症(21-hydroxylase deficiency,21-OHD)是先天性肾上腺皮质增生症最常见的一种,部分21-OHD患者的临床症状不典型,容易漏诊、误诊。报道2例因月经紊乱、不孕及高雄激素血症就诊而误诊为多囊卵巢综合征(polycystic ovary syndrome,PCOS)的21-OHD患者的临床资料,基因测序显示1例携带c.374G>A(p.Arg125His)和c.518T>A(p.Ile173Asn)杂合错义突变,明确了突变基因来自患者父母;另1例携带c.518T>A(p.Ile173Asn)纯合错义突变,因亲属未检测故未明确突变来源。给予地塞米松口服治疗,2例患者均恢复规律月经,高雄激素血症临床症状得到改善,其中1例成功妊娠并分娩。育龄期女性如以不孕、高雄激素血症表现就诊,诊断为PCOS而治疗效果不佳时,应考虑21-OHD,进一步行17-羟孕酮测定、促肾上腺皮质激素兴奋试验和基因突变检测可明确诊断。21-hydroxylase deficiency(21-OHD)is one of the most common congenital adrenal hyperplasia.The clinical symptom in part of patients with 21-OHD is atypical,so that 21-OHD is easy to be misdiagnosed or missed diagnosis.In this paper,we report 2 cases of 21-OHD that was misdiagnosed as polycystic ovary syndrome(PCOS)due to menstrual disorder,infertility and hyperandrogenemia.Sanger sequencing showed that one patient carried c.374G>A(p.Arg125His)and c.518T>A(p.Ile173Asn)heterozygous missense mutations,confirming that the mutant gene came from her parents.Another patient carried homozygous missense mutation of c.518T>A(p.Ile173Asn),and the source of mutation was not clear because her relatives were not detected.With the treatment of oral dexamethasone,2 patients were restored the regular menstruation,and improved the symptoms of hyperandrogenism.One patient got successful pregnancy and childbirth.When women of childbearing age with infertility and hyperandrogenemia were diagnosed as PCOS,and the treatment effect is not good,21-OHD should be considered.The combination of 17-OHP assay,ACTH excitation test and gene mutation test will be helpful for the definite diagnosis and differential diagnosis.

关 键 词：类固醇21-羟化酶 雄激素增多症 肾上腺增生 先天性 多囊卵巢综合征 基因 突变 误义 21-羟化酶缺乏症 

分 类 号：R596.1[医药卫生—内科学]