非经典型21-羟化酶缺陷症1例家系调查及妊娠期治疗分析  

AN INVESTIGATION OF A FAMILY WITH NON-CLASSICAL 21-HYDROXYLASE DEFICIENCY AND TREATMENT DURING PREGNANCY

作　　者：孔悠然 董冰子 张欣欣 王颜刚[1] 袁鹰[1] KONG Youran;DONG Bingzi;ZHANG Xinxin;WANG Yangang;YUAN Ying(Department of Endocrinology,The Affiliated Hospital of Qingdao University,Qingdao 266071,China)

机构地区：[1]青岛大学附属医院内分泌与代谢病科,山东青岛266071

出　　处：《青岛大学学报（医学版）》2021年第2期302-305,共4页Journal of Qingdao University(Medical Sciences)

基　　金：国家自然科学基金青年科学基金项目(81600691);山东省自然科学基金博士基金项目(ZR2016HB08)。

摘　　要：目的探讨先天性肾上腺皮质增生症(CAH)病人妊娠期治疗策略。方法回顾性分析1例女性非经典型21-羟化酶缺陷症(NC-21-OHD)病人的临床资料,并重点复习近5年来国内外相关文献。结果病人的CYP21A2基因检测到杂合突变c.844G>T p.(Val282Leu)(病人父亲及女儿存在同位点的变异)和c.1069C>T p.(Arg357Trp)(病人母亲存在同位点的变异)。结合临床表现及基因检测结果该病人被诊断为NC-21-OHD;经过规范化的糖皮质激素治疗,病人再次自然受孕。结论通过规范化的医疗指导及临床监管,CAH女性病人有机会实现安全的妊娠并生育健康的孩子。Objective To investigate the treatment strategies for patients with congenital adrenal hyperplasia(CAH)during pregnancy.Methods A retrospective analysis was performed for the clinical data of a female patient with non-classical 21-hydroxylase deficiency(NC-21-OHD),and a literature review was performed for related articles in China and foreign countries in the recent 5 years.Results The heterozygous mutations c.844G>T p.(Val282Leu)(mutations in the same locus was observed in the patient’s father and daughter)and c.1069C>T p.(Arg357Trp)(mutations in the same locus was observed in the patient’s mother)were detected in the CYP21A2 gene of this patient.With reference to clinical manifestations and genetic testing results,the patient was diagnosed with NC-21-OHD,and the patient conceived naturally after standardized glucocorticoid treatment.Conclusion Through standardized medical guidance and clinical supervision,female patients with CAH have the opportunity to achieve safe pregnancy and give birth to healthy children.

关 键 词：肾上腺增生 先天性 非经典型21-羟化酶缺陷症 系谱 孕妇 治疗 

分 类 号：R586.22[医药卫生—内分泌]