17α-羟化酶缺乏症3家系临床分析  

Clinical analysis of five patients with 17α-hydroxylase deficiency from three families

作　　者：马秀琦 唐怡珺 陈瑶[1,2] 刘倩 张小芳 陈林 张怡 汪希珂[1] 王秀敏[2] MA Xiuqi;TANG Yijun;CHEN Yao;LIU Qian;ZHANG Xiaofang;CHEN Lin;ZHANG Yi;WANG Xike;WANG Xiumin(Department of Pediatric Endocrinology,Genetics and Metabolism,Guizhou Branch of Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Guizhou Provincial People's Hospital,Guiyang 550003,Guizhou,China;Department of Endocrinology,Genetics and Metabolism,Shanghai Children’s Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心贵州医院贵州省人民医院儿童内分泌遗传代谢科,贵州贵阳550003 [2]上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科,上海200127

出　　处：《临床儿科杂志》2024年第5期450-455,共6页Journal of Clinical Pediatrics

基　　金：黔科合基础-ZK[2021]一般411;国家自然科学基金(No.82060212)。

摘　　要：目的探讨并总结17α-羟化酶缺乏症的诊断及治疗。方法回顾性分析2015年11月至2023年2月儿童内分泌遗传代谢科收治的来自3个家系共5例17α-羟化酶缺乏症(17OHD)病例的临床资料,并复习相关文献。结果5例患儿均存在高血压、低血钾及性激素水平低下,4例无第二性征发育,2例46,XY患儿行性腺活检+双侧睾丸切除术,术后性腺病理结果为发育不良的睾丸。基因分析结果提示3例为CPY17A1基因c.985_987delinsAA纯合突变,另2例为CPY17A1基因c.785T>G与c.1193C>T复合杂合突变。5例患儿经糖皮质激素治疗,低血钾和高血压均得到控制。结论早期识别与诊断17α-羟化酶缺乏症,及时予糖皮质激素替代治疗,可获得满意的疗效,提高患儿生活质量。基因测序有助于明确该罕见病的分子学诊断。Objective To investigate and summarize the diagnosis and treatment of 17α-hydroxylase deficiency.Methods Clinical data of a total of 5 cases of 17α-hydroxylase deficiency(17OHD)from 3 families admitted to the Department of Pediatric Endocrinology and Genetic Metabolism from November 2015 to February 2023 were retrospectively analyzed,and relevant literature was reviewed.Results Hypertension,hypokalemia and low sex hormone levels were present in all 5 cases,4 cases had no secondary sexual development,and 2 children with 46,XY underwent gonadal biopsy and bilateral orchiectomy,and postoperative gonadal pathology showed dysplasia of testis.Genetic analysis showed that 3 cases had homozygous variants of c.985_987delinsAA,which resulted in amino acid shift line mutation(p.Tyr329Lysfs*90),and the other two cases had compound heterozygous varaiants of c.785 T>G and c.1193 C>T.Hypokalemia and hypertension were controlled by glucocorticoid therapy.Conclusions Early recognition and diagnosis of 17α-hydroxylase deficiency and timely glucocorticoid replacement therapy can achieve a satisfactory outcome and improve the quality of life of the children.Gene sequencing helps to clarify the molecular diagnosis of this rare disease.

关 键 词：17Α-羟化酶缺乏症 CYP17A1 高血压 低钾血症 

分 类 号：R725.9[医药卫生—儿科]