A multidisciplinary approach in a two generation family presenting with a 46,XY disorder of sex development

被引：0
|
作者：
Soares, A. R. [1 ]
Borges, T. [2 ]
Fernandes, E. [3 ]
Teles, N. O. [4 ,5 ]
Goncalves, A. [5 ,6 ]
Oliveira, M. E. [5 ,6 ]
Santos, R. [5 ,6 ]
Fortuna, A. M. [1 ,5 ]
机构：
[1] Ctr Genet Med Dr Jacinto Magalhaes CHPorto, Med Genet Dept, Porto, Portugal
[2] Ctr Maternoinfantil Norte CHPorto, Paediat Endocrinol Unit, Porto, Portugal
[3] Ctr Maternoinfantil Norte CHPorto, Gynaecol Dept, Porto, Portugal
[4] Ctr Genet Med Dr Jacinto Magalhaes CHPorto, Cytogenet Unit, Porto, Portugal
[5] Univ Porto, Abel Salazar Inst Biomed Sci, Unit Multidisciplinary Res Biomed, Porto, Portugal
[6] Ctr Genet Med Dr Jacinto Magalhaes CHPorto, Mol Genet Unit, Porto, Portugal
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P01.06
引用
收藏
页码：822 / 822
页数：1
相关论文
共 50 条
  • [21] A Turkish Family with 46,XY Disorder of Sex Development Due to 17b-Hydroxysteroid Dehydrogenase Type 3 Deficiency
    Gurbuz, Fatih
    Turan, Ihsan
    Tastan, Mehmet
    Yuksel, Bilgin
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 582 - 582
  • [22] Review and management of 46,XY Disorders of Sex Development
    Massanyi, Eric Z.
    DiCarlo, Heather N.
    Migeon, Claude J.
    Gearhart, John P.
    JOURNAL OF PEDIATRIC UROLOGY, 2013, 9 (03) : 368 - 379
  • [23] Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature
    Koui Bbs
    Abouna Ad
    Toukilnan Djiwa
    Traore B
    Kouyate M
    Kouame Ke
    Aman Na
    BMC Women's Health, 23
  • [24] Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature
    Bbs, Koui
    Ad, Abouna
    Djiwa, Toukilnan
    Traore, B.
    Kouyate, M.
    Ke, Kouame
    Na, Aman
    BMC WOMENS HEALTH, 2023, 23 (01)
  • [25] CASE REPORT: 46, XY DISORDER OF SEX DEVELOPMENT, NR5A1-RELATED
    Shcherbak, Yuliya
    Zelinska, Nataliya
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 370 - 371
  • [26] Clinical characteristic and testicular function in children with 46 XY disorder of sex development in a developing country
    Khater, Doaa
    Raafat, Shaymaa
    Badawy, Haytham
    Omar, Magdy
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 557 - 557
  • [27] A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
    White, Stefan
    Hewitt, Jacqueline
    Turbitt, Erin
    van der Zwan, Yvonne
    Hersmus, Remko
    Drop, Stenvert
    Koopman, Peter
    Harley, Vincent
    Cools, Martine
    Looijenga, Leendert
    Sinclair, Andrew
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (03) : 348 - 351
  • [28] A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
    Stefan White
    Jacqueline Hewitt
    Erin Turbitt
    Yvonne van der Zwan
    Remko Hersmus
    Stenvert Drop
    Peter Koopman
    Vincent Harley
    Martine Cools
    Leendert Looijenga
    Andrew Sinclair
    European Journal of Human Genetics, 2012, 20 : 348 - 351
  • [29] 45,X/47,XYY Chromosomal Mosaicism as a Cause of 46,XY Disorder of Sex Development
    Anik, Ahmet
    Kasikci, Esma Tugba
    Sahin, Suzan
    Unuvar, Tolga
    Turkmen, Munevver Kaynak
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 294 - 295
  • [30] Molecular profiling of 46, XY Disorders of Sex Development by Next Generation Sequencing in an Indian cohort
    Priyadarshini, Sukanya
    Faruq, Mohammed
    Sharma, Rajni
    Jain, Vandana
    SEXUAL DEVELOPMENT, 2024, 17 : 99 - 100
12345