以外周性性早熟为主要临床表现的先天性肾上腺皮质增生症一家系的临床分析与基因诊断  

Clinical analysis and genetic diagnosis in a family of congenital adrenal hyperplasia with peripheral precocious puberty as mainly clinical manifestation

作　　者：刘舒[1] 欧阳海梅[2] 韦思思 张也 梁金群[1] 陈暖[1] 曾伟宏[1] 江剑辉[1] LIU Shu;OUYANG Haimei;WEI Sisi;ZHANG Ye;LIANG Jinqun;CHEN Nuan;ZENG Weihong;JIANG Jianhui(Department of Children Inherited Metabolism and Endocrine,Guangdong Provincial Women and Children Hospital,Guangzhou,Guangdong 511442,China;Department of Medical Affairs,Guangdong Provincial Women and Children Hospital,Guangzhou,Guangdong 511442,China)

机构地区：[1]广东省妇幼保健院儿童遗传代谢与内分泌科,广东广州511442 [2]广东省妇幼保健院医务科,广东广州511442

出　　处：《国际检验医学杂志》2021年第21期2592-2595,共4页International Journal of Laboratory Medicine

基　　金：广东省自然科学基金面上项目(2021A1515010969);广东省中医药局科研项目(20211046)。

摘　　要：目的分析1例罕见的21-羟化酶基因缺陷所致的先天性肾上腺皮质增生症患儿合并外周性性早熟的临床表现及诊断流程,为该病的诊断、鉴别诊断和精准治疗提供参考。方法以2020年1例因“阴茎显著增长伴生长速率加速5年,面部痤疮半年”在儿童遗传代谢与内分泌科就诊的男性患儿为研究对象,患儿5岁8个月,对其临床表型、病因学进行分析。结果患儿血清雄激素、促黄体生成素和17-羟孕酮异常升高。新一代基因测序发现CYP21A2基因复合杂合突变:c.518T>A(p.I173N)和c.740delA(p.E247Gfs*11),分别遗传自患儿父亲和母亲,其中c.740delA(p.E247Gfs*11)为新突变。患儿确诊为21-羟化酶基因缺陷所致的先天性肾上腺皮质增生症。患儿经积极治疗,效果良好。结论该患儿以阴毛早现、阴茎增大、生长加速、骨龄发育提前等为表现,病情和临床表现复杂多样,诊断困难,最终通过基因检测得以确诊。临床上遇到具有上述临床表现却不能以常规性早熟解释的患儿,需要考虑21-羟化酶缺陷症可能。Objective To analyze the clinical manifestations and diagnostic process for a rare case of congenital adrenal hyperplasia(CAH)caused by 21-hydroxylase gene defect complicating peripheral precocious puberty to provide the reference for the diagnosis,differential diagnosis and accurate treatment of this disease.Methods A male case of clinical manifestations of precocious puberty visited the hospital due to"significant penis growth and early appearance of facial acne for half a year"by accelerated growth rate diagnosed and treated in the children inherited metabolism and endocrine department in 2020 served as the study subject.The patient was five years and eight months old.The clinical phenotype and etiology were analyzed.Results The serum androgen,luteinizing hormone and 17-α-hydoxy progesterone were abnormally increased in this child patient.The new generation gene sequencing found the compound heterozygous mutations of CYP21A2,c.518T>A(p.I173N)and c.740delA(p.E247Gfs*11),which were inherited from his father and mother respectively,in which c.740delA(p.E247Gfs*11)was a new mutation.So,the child patient was definitely diagnosed as congenital adrenal hyperplasia caused by 21-hydroxyulase deficiency.After the active treatment,the effects were good.Conclusion This child patient was manifested by early pubarche,penis enlargement,growth spurt,and early development of bone age,the condition and clinical manifestations were complex and diversity,so the diagnosis was difficult.The definite diagnosis was finally obtained by the gene detection.If physicians meet a patient with above clinical manifestations which cannot be explained by conventional precocity puberty,so the possibility of 21-hydroxylase deficiency needs to be considered.

关 键 词：外周性性早熟 21-羟化酶缺陷症 先天性肾上腺皮质增生症 基因突变 

分 类 号：R596[医药卫生—内科学]