21-羟化酶缺陷症合并嵌合型Turner综合征一例报告及文献复习  

A case of 21-hydroxylase deficiency in Turner＇s syndrome and literature review

作　　者：贾慧英 孙首悦 陈宇红 杨祖威 张婕 齐研 张豫文 王卫庆[2] 宁光[2] 

机构地区：[1]上海交通大学医学院附属瑞金医院北院内分泌科,201801 [2]上海交通大学医学院附属瑞金医院内分泌代谢病科,上海市内分泌代谢病临床医学中心,上海市内分泌代谢病研究所,200025

出　　处：《中华内分泌代谢杂志》2017年第9期760-764,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金青年基金项目（81401163）;上海市卫生和计划生育委员会科研课题（201440528）;上海申康医院发展中心新兴前沿技术项目（SHDC12012102）

摘　　要：总结先天性肾上腺皮质增生症（CAH）合并Turner综合征的诊断和治疗经验，提高对该病的认识。报道1例21-羟化酶缺陷症（21-ODH）合并45，X[3]/46，XX[47]患者的诊断、治疗和随访病例，对相关文献进行复习。患者因＂阴蒂肥大29年，原发性闭经16年＂就诊。血压120/80 mmHg（1 mmHg＝0.133 kPa），身高150 cm，体重56 kg，轻度肘外翻，多毛评分10分，阴蒂肥大，阴毛呈菱形分布，Tanner分期B5P5。辅助检查：性激素示17-羟孕酮、雄激素明显升高，雌二醇水平偏低；肾上腺计算机X线断层摄影（CT）增强示双侧肾上腺增生；妇科超声示子宫、卵巢大小可，内膜显示不清；CYP21A2基因突变筛查结果显示存在2个突变位点：IVS2-13C/A→G和p.Ile173Asn（c.518T→A）。综合上述结果，考虑21-OHD（单纯男性化型）合并嵌合型Turner综合征，予以地塞米松治疗，雄激素水平降至正常范围，雌二醇水平升高，有规律月经来潮。系统文献检索国外仅有10例Turner综合征合并CAH的病例报告。此患者的发现提示，具有常见的Turner综合征染色体核型的患者，如果出现外生殖器模棱两可或CAH诊断明确，则提示两种疾病同时存在。应尽早明确诊断，尽早治疗。To improve the recognition and treatment of the combination of classical congenital adrenal hyperplasia （CAH） and Turner＇s syndrome. A case of 21-hydroxylase deficiency （21-OHD） in 45, X [ 3 ]/46, XX [ 47 ] was reported, and the related literatures were reviewed. A 29-year-old woman with 45, X [ 3 ]/46, XX [ 47 ] was referred with clitorimegaly and primary amenorrhea. Her height was 150 cm with a weight of 56 kg. Physical examination revealed a Tanner stage V/for both breast development and pubic hair development. She showed a little signs of Turner＇ s syndrome, such as cubitus valgus. Lab findings： sex hormones are significantly increased, including progesterone, testosterone, dehydroepiandrosterone, 17 hydroxyprogesterone, dihydrotestosterone, and androstendione. Enhanced CT scan showed bilateral adrenal hyperplasia. Gynecological ultrasound showed that the size of the utenas and ovary were near normal and the endometrium was not clear. By gene mutation screening, two mutation sites were found in CYP21A2 gene, such as IVS2-13C/A→G and p. Ile173Asn （e. 518T→A）. Taken together, the patient was diagnosed as a combination of 21-OHD and Turner syndrome. A total of ten patients associated with CAH in Turner＇s syndrome have been reported so far. The findings showed that routine karyotyping during investigations of patients presenting with ambiguous genitalia or with a diagnosis of CAH may reveal the concomitant presence of Turner＇s syndrome. We should make a definite diagnosis and give early treatment as soon as possible.

关 键 词：先天性肾上腺皮质增生症 21-羟化酶缺陷症 TURNER综合征 CYP21A2基因突变 

分 类 号：R586[医药卫生—内分泌] R596[医药卫生—内科学]