单位：[1]Department of Internal Medicine,Tongji Hospital,Huazhong University of Science and Technology,Wuhan,Hubei,P.R. China.大内科华中科技大学同济医学院附属同济医院内科学系[2]Department of Urology,Tongji Hospital,Huazhong University of Science and Technology,Wuhan,Hubei,P.R. China.华中科技大学同济医学院附属同济医院外科学系泌尿外科[3]Molecular Diagnostic Laboratory,Tongji Hospital,Huazhong University of Science and Technology,Wuhan,Hubei,China.华中科技大学同济医学院附属同济医院
In this study, we described a male who presented with delayed-onset adrenal hypoplasia congenita (AHC) and mild hypogonadotropic hypogonadism (HHG) without a relevant family history. A novel mutation in the DAX1 (dosage-sensitive sex reversal, congenital adrenal hypoplasia critical region on the X chromosome, gene 1) gene was shown to cause X-linked AHC and HHG. Genetic analysis revealed a novel nonsense mutation, c.154G > T (p.Glu52Term), in the DAX1 gene. Molecular testing demonstrated that the milder phenotype caused by this mutation was due to expression of a partially functional, amino-truncated DAX1 protein generated from an alternate in-frame translation start site (methionine at codon 83). This unusual case revealed a potential mechanism for a novel mutation that resulted in an unusual delayed-onset mild clinical phenotype. It expands the spectrum of adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
基金：
This work was supported by the National
Natural Science Foundation of China
(81770817).
语种：
外文
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2018]版：
大类|4 区医学
小类|4 区医学：研究与实验4 区药学
最新[2025]版：
大类|4 区医学
小类|4 区医学：研究与实验4 区药学
JCR分区：
出版当年[2017]版：
Q4PHARMACOLOGY & PHARMACYQ4MEDICINE, RESEARCH & EXPERIMENTAL
最新[2024]版：
Q3MEDICINE, RESEARCH & EXPERIMENTALQ4PHARMACOLOGY & PHARMACY
第一作者单位：[1]Department of Internal Medicine,Tongji Hospital,Huazhong University of Science and Technology,Wuhan,Hubei,P.R. China.
共同第一作者：
通讯作者：
通讯机构：[1]Department of Internal Medicine,Tongji Hospital,Huazhong University of Science and Technology,Wuhan,Hubei,P.R. China.[*1]Department of Internal Medicine,Tongji Hospital,Tongji Medical College,Huazhong University of Science & Technology,Wuhan 430030,China
推荐引用方式(GB/T 7714)：
Liu Siyue,Yan Libin,Zhou Xinrong,et al.Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1[J].The Journal Of International Medical Research.2019,48(2):1-9.doi:10.1177/0300060519882151.
APA：
Liu Siyue,Yan Libin,Zhou Xinrong,Chen Chen,Wang Daowen&Yuan Gang.(2019).Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1.The Journal Of International Medical Research,48,(2)
MLA：
Liu Siyue,et al."Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1".The Journal Of International Medical Research 48..2(2019):1-9
