一例可能与CYP11A1杂合突变有关的非典型胆固醇侧链酶缺陷症  

A case of atypical cholesterol side chain defect possibly caused by CYP11A1 heterozygous mutation

作　　者：匡骁 王红慧 胡男 王红仙 阳惠湘[2] 雷闽湘[3] 郭丽娟[3] Kuang Xiao;Wang Honghui;Hu Nan;Wang Hongxian;Yang Huixiang;Lei Minxiang;Guo Lijuan(Department of Geriatrics, Respiratory Medicine, Xiangya Hospital, Central South University, Changsha 410008, China;Department of Gastroenterology, Xiangya Hospital, Central South University, Changsha 410008, China;Department of Endocrinology, Xiangya Hospital, Central South University, Changsha 410008, China;Department of Anesthesiology, Kunming Angel Women′s & Children′s Hospital, Kunming 650000, China)

机构地区：[1]中南大学湘雅医院老年医学呼吸内科,长沙410008 [2]中南大学湘雅医院消化内科,长沙410008 [3]中南大学湘雅医院内分泌科,长沙410008 [4]昆明安琪儿妇产医院麻醉科,650000

出　　处：《中华内分泌代谢杂志》2019年第2期161-164,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：胆固醇侧链酶缺陷是先天性肾上腺皮质增生症中最严重的一种类型,极为少见。中南大学湘雅医院收治了1例性腺发育不良的男性患儿,存在皮肤色素改变,曾有失盐证据,实验室检查发现血浆ACTH极高,皮质醇、性激素水平降低;基因检测发现CYP11A1p.A359V杂合突变,且糖皮质激素治疗有效,诊断可能为CYP11A1杂合突变相关的非典型胆固醇侧链酶缺陷症。This paper reports a case of atypical cholesterol side chain enzyme deficiency caused possibly by CYP11A1p.A359V heterozygous mutation. The patient was diagnosed as congenital adrenal hyperplasia because he was born with gonadal dysplasia and there were manifestations of salt losing and pigment changing, combined with high level of plasma ACTH. Further genetic screening revealed CYP11A1p.A359V heterozygous mutations in patients with a final diagnosis of cholesterol side chain enzyme deficiency which was treated effectively to glucocorticoid.

关 键 词：CYP11A1 先天性肾上腺皮质增生症 非经典型胆固醇侧链酶缺陷症 

分 类 号：R725.8[医药卫生—儿科]