Testicular function of 46,XY subjects with differences of sex development (DSD) due to NR5A1 mutations

被引:0
|
作者
Dallago, Renata T. [1 ]
Batista, Rafael Loch [1 ]
Guerra-Junior, Gil [2 ]
Maciel-Guerra, Andrea Trevas [2 ]
El Beck, Mayra S. [2 ]
Costa, Elaine M. F. [1 ]
Inacio, Marlene [1 ]
Nishi, Mirian [1 ]
Domenice, Sorahia [1 ]
Mendonca, Berenice B.
机构
[1] Unidade Endocrinol Desenvolvimento, LIM 42 Disciplina Endocrinol, HCFMUSP, Sao Paulo, Brazil
[2] Univ Estadual Campinas UNICAMP, Lab Multiusuario Sequenciamento Larga Escala SELA, Sao Paulo, Brazil
来源
HORMONE RESEARCH IN PAEDIATRICS | 2023年 / 96卷 / SUPPL 2期
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:58 / 58
页数:1
相关论文
共 50 条
  • [1] Clinical and Molecular Characteristics of Russian Patients with 46,XY DSD due to NR5A1 Gene Mutations
    Kalinchenko, Natalia
    Petrov, Vasiliy
    Vasiliev, Evgeniy
    Tiulpakov, Anatoly
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 335 - 335
  • [2] Pubertal development in 46,XY patients with NR5A1 mutations
    Isabel Mönig
    Julia Schneidewind
    Trine H. Johannsen
    Anders Juul
    Ralf Werner
    Ralf Lünstedt
    Wiebke Birnbaum
    Louise Marshall
    Lutz Wünsch
    Olaf Hiort
    Endocrine, 2022, 75 : 601 - 613
  • [3] Pubertal development in 46,XY patients with NR5A1 mutations
    Moenig, Isabel
    Schneidewind, Julia
    Johannsen, Trine H.
    Juul, Anders
    Werner, Ralf
    Luenstedt, Ralf
    Birnbaum, Wiebke
    Marshall, Louise
    Wuensch, Lutz
    Hiort, Olaf
    ENDOCRINE, 2022, 75 (02) : 601 - 613
  • [4] A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD
    Wacharasindhu, Suttipong
    Ittiwut, Chupong
    Ittiwut, Rungnapa
    Aroonparkmongkol, Suphab
    Suphapeetiporn, Kanya
    JOURNAL OF PEDIATRIC GENETICS, 2024, 13 (03) : 181 - 184
  • [5] 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
  • [6] 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
  • [7] Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development
    Fabbri-Scallet, Helena
    de Mello, Maricilda Palandi
    Guerra-Junior, Gil
    Maciel-Guerra, Andrea Trevas
    Ribeiro de Andrade, Juliana Gabriel
    Costa de Queiroz, Camila Maia
    Monlleo, Isabella Lopes
    Struve, Dagmar
    Hiort, Olaf
    Werner, Ralf
    HUMAN MUTATION, 2018, 39 (01) : 114 - 123
  • [8] Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients
    Nishina-Uchida, Noriko
    Fukuzawa, Ryuji
    Numakura, Chikahiko
    Suwanai, Ayuko S.
    Hasegawa, Tomonobu
    Hasegawa, Yukihiro
    HORMONE RESEARCH IN PAEDIATRICS, 2013, 80 (02): : 119 - 128
  • [9] Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations
    Santa Rocca, Maria
    Ortolano, Rita
    Menabo, Soara
    Baronio, Federico
    Cassio, Alessandra
    Russo, Gianni
    Balsamo, Antonio
    Ferlin, Alberto
    Baldazzi, Lilia
    FERTILITY AND STERILITY, 2018, 109 (06) : 1105 - 1113
  • [10] NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development
    Bertelloni, Silvano
    Dati, Eleonora
    Baldinotti, Fulvia
    Toschi, Benedetta
    Marrocco, Giacinto
    Sessa, Maria R.
    Michelucci, Angela
    Simi, Paolo
    Baroncelli, Giampiero I.
    HORMONE RESEARCH IN PAEDIATRICS, 2014, 81 (02): : 104 - 108