DHX37基因突变导致46,XY部分型性腺发育不良一例的临床及遗传学分析并文献复习  

Clinical and genetic analysis of 46,XY partial gonadal dysgenesis caused by DHX37 mutation:One case report and literature review

作　　者：逯海波 彭慧芳 高金爽 马瑜瑾 李利平 王瑛 姜宏卫[1] Lu Haibo;Peng Huifang;Gao Jinshuang;Ma Yujin;Li Liping;Wang Ying;Jiang Hongwei(Department of Endocrinology and Metabolism,the First Affiliated Hospital,College of Clinical Medicine of Henan University of Science and Technology,National Clinical Research Center for Metabolic Diseases Sub-center,Medical Key Laboratory of Hereditary Rare Diseases of Henan,Luoyang 471003,China;Department of Laboratory Medicine,the Third Affiliated Hospital of Zhengzhou University,Maternity and Child Health Hospital of Henan Province,Zhengzhou 450000,China)

机构地区：[1]河南科技大学临床医学院,河南科技大学第一附属医院内分泌代谢科,国家代谢病临床医学研究中心分中心,河南省遗传罕见病医学重点实验室,洛阳471003 [2]郑州大学第三附属医院,河南省妇幼保健院检验科,450000

出　　处：《中华内分泌代谢杂志》2022年第3期249-252,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20200585);河南省科技发展计划项目(212102310780);河南省医学教育研究项目(Wjlx2020466)。

摘　　要：本文报道1例因DEAH-box RNA解旋酶37(DHX37)先天性缺陷导致46,XY部分型性腺发育不良。收集并分析总结1例因"外生殖器模糊不清"于2020年9月就诊于河南科技大学第一附属医院内分泌代谢科患儿的临床资料及基因检测结果。患儿为3月龄男童,表现为小阴茎、双侧隐睾,染色体核型46,XY,睾酮、抗米勒管激素、抑制素B降低,卵泡刺激素升高,睾丸活检示双侧性腺发育不良,基因检测发现DHX37存在c.923G>A(p.Arg308Gln)新发杂合突变。临床上对于46,XY性腺发育不良需考虑DHX37变异。One case of 46,XY partial gonadal dysgenesis due to a congenital defect of DEAH-box RNA helicase 37(DHX37)was reported.The clinical and genetic data of a boy who was admitted to the Department of Endocrinology and Metabolism,the First Affiliated Hospital of Henan University of Science and Technology due to ambiguous external genitalia in September 2020 were collected and analyzed.This 3-month-old male patient showed a micropenis,bilateral cryptorchidism,46,XY karyotype,a decrease in testosterone,anti-Müllerian hormone,inhibin B,an increase in follicle stimulating hormone.Testis biopsy indicated gonadal dysgenesis.The proband harbored a de novo heterozygous mutation in the DHX37 gene c.923G>A(p.Arg308Gln).DHX37 variants need to be considered for 46,XY gonadal dysgenesis.

关 键 词：性发育异常 性腺发育不良 DHX37 核糖体病 

分 类 号：R725.9[医药卫生—儿科]