A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report

被引：0
|
作者：
Dan Zhang
Dajia Wang
Yajie Tong
Mingyu Li
Lingzhe Meng
Qiutong Song
Ying Xin
机构：
[1] Shengjing Hospital of China Medical University,Department of Pediatrics
[2] Shengjing Hospital of China Medical University,Department of Clinical Laboratory
来源：
BMC Pediatrics | / 23卷
关键词：
46,XY disorders of sex development; NR5A1; Anti-Müllerian hormone; Adolescent;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 33 条
  • [1] A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report
    Zhang, Dan
    Wang, Dajia
    Tong, Yajie
    Li, Mingyu
    Meng, Lingzhe
    Song, Qiutong
    Xin, Ying
    BMC PEDIATRICS, 2023, 23 (01)
  • [2] Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development
    Kirkgoz, Tarik
    Gursoy, Semra
    Acar, Sezer
    Koprulu, Ozge
    Ozkaya, Beyhan
    Arslan, Gulcin
    Nalbantoglu, Ozlem
    Hazan, Filiz
    Ozkan, Behzat
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 37 (06): : 575 - 579
  • [3] Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development
    Yu, Bingqing
    Liu, Zhaoxiang
    Gao, Yinjie
    Mao, Jiangfeng
    Wang, Xi
    Hao, Ming
    Ma, Wanlu
    Huang, Qibin
    Zhang, Rui
    Nie, Min
    Wu, Xueyan
    CLINICAL ENDOCRINOLOGY, 2018, 89 (05) : 613 - 620
  • [4] Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
    Alhamoudi, Kheloud M.
    Alghamdi, Balgees
    Aljomaiah, Abeer
    Alswailem, Meshael
    Al-Hindi, Hindi
    Alzahrani, Ali S.
    FRONTIERS IN GENETICS, 2022, 13
  • [5] Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation
    Werner, Ralf
    Moenig, Isabel
    August, Julia
    Freiberg, Clemens
    Luenstedt, Ralf
    Reiz, Benedikt
    Wuensch, Lutz
    Holterhus, Paul-Martin
    Kulle, Alexandra
    Doehnert, Ulla
    Wudy, Stefan A.
    Richter-Unruh, Annette
    Thorns, Christoph
    Hiort, Olaf
    SEXUAL DEVELOPMENT, 2015, 9 (05) : 260 - 268
  • [6] A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development
    Wu, Joyce Y.
    McGown, Ivan N.
    Lin, Lin
    Achermann, John C.
    Harris, Mark
    Cowley, David M.
    Aftimos, Salim
    Neville, Kristen A.
    Choong, Catherine S.
    Cotterill, Andrew M.
    CLINICAL ENDOCRINOLOGY, 2013, 78 (04) : 545 - 550
  • [7] Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development
    Sudhakar, Digumarthi V. S.
    Jaishankar, Shveta
    Regur, Phanindranath
    Kumar, Umesh
    Singh, Raghvendra
    Kabilan, Usha
    Namduri, Sree
    Dhyani, Jaishree
    Gupta, Nalini J.
    Chakravarthy, Baidyanath
    Vaman, Khadilkar
    Shabir, Iram
    Khadgawat, Rajesh
    Deenadayal, Mamata
    Chaitanya, Datar A.
    Dada, Rima
    Sharma, Yogendra
    Anand, Anuranjan
    Thangaraj, Kumarasamy
    SEXUAL DEVELOPMENT, 2020, 13 (04) : 178 - 186
  • [8] A case of male pseudoermaphroditism (46,XY DSD) in an adolescent with a novel de novo NR5A1 gene variant
    Kostopoulou, Eirini
    Samkinidou, Efstratia
    Sertedaki, Amalia
    Efthymiadou, Alexandra
    Giannakopoulos, Aristeidis
    Hyun, Seong-In
    Lee, Hane
    Seo, Go Hun
    Chrysis, Dionisios
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 566 - 567
  • [9] Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
    Bingqing Yu
    Yinjie Gao
    Jiangfeng Mao
    Xi Wang
    Min Nie
    Xueyan Wu
    Orphanet Journal of Rare Diseases, 16
  • [10] Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development
    Sinian Pan
    Shili Guo
    Liting Liu
    Xiaoyuan Yang
    Hanmei Liang
    Journal of Assisted Reproduction and Genetics, 2020, 37 : 477 - 486
1234