Pure gonadal dysgenesis with partial testicular development associated with Turner syndrome with SRY

被引：0
|
作者：
Yi, Kyung Hee [1 ]
Kim, Eun Young [2 ]
Han, Heon Seok [3 ]
机构：
[1] Wonkwang Univ, Sanbon Med Ctr, Dept Pediat, Gunpo, South Korea
[2] Chosun Univ, Sch Med, Dept Pediat, Gwangju, South Korea
[3] Chungbuk Natl Univ, Coll Med, Dept Pediat 2, Cheongju, South Korea
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2019年 / 91卷
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：
P3-172
引用
收藏
页码：576 / 576
页数：1
相关论文
共 50 条
  • [21] Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis
    Giorgio Gimelli
    Stefania Gimelli
    Nazzareno Dimasi
    Renata Bocciardi
    Eliana Di Battista
    Tiziano Pramparo
    Orsetta Zuffardi
    European Journal of Human Genetics, 2007, 15 : 76 - 80
  • [22] Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis
    Gimelli, Giorgio
    Gimelli, Stefania
    Dimasi, Nazzareno
    Bocciardi, Renata
    Di Battista, Eliana
    Pramparo, Tiziano
    Zuffardi, Orsetta
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (01) : 76 - 80
  • [23] CORRELATION BETWEEN MUTATIONS IN THE HUMAN SRY GENE AND 46,XY PURE GONADAL-DYSGENESIS
    PIVNICK, EK
    OPP, JS
    MULLER, U
    SIMPSON, JL
    WACHTEL, S
    BISHOP, CE
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 396 - 396
  • [24] Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis
    Jahromi, BN
    Mohit, M
    Kumar, PV
    SAUDI MEDICAL JOURNAL, 2005, 26 (05) : 872 - 874
  • [25] A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient
    Shahid, Mohammad
    Dhillon, Varinderpal S.
    Khalil, Hesham Saleh
    Haque, Shameemul
    Batra, Swaraj
    Husain, Syed Akhtar
    Looijenga, L. H. J.
    BMC MEDICAL GENETICS, 2010, 11
  • [26] Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome
    Schumacher, Valerie
    Gueler, Banu
    Looijenga, Leendert H. J.
    Becker, Jan Ulrich
    Amann, Kerstin
    Engers, Rainer
    Dotsch, Joerg
    Stoop, Hans
    Schulz, Wolfgang
    Royer-Pokora, Brigitte
    MOLECULAR REPRODUCTION AND DEVELOPMENT, 2008, 75 (09) : 1484 - 1494
  • [27] Growth, pubertal development and associated anomalies in 11 patients with XY partial gonadal dysgenesis
    Andrade, Juliana G. R.
    Guerra-Junior, Gil
    De Mello, Maricilda P.
    Maciel-Guerra, Andrea T.
    HORMONE RESEARCH, 2009, 72 : 490 - 490
  • [28] Severe osteoporosis as a presentation of concealed Swyer syndrome (pure gonadal dysgenesis)
    O'Hare, J. A.
    Hickey, K.
    IRISH JOURNAL OF MEDICAL SCIENCE, 2014, 183 : S471 - S471
  • [29] SRY Gene Increases the Risk of Developing Gonadoblastoma and/or Nontumoral Gonadal Lesions in Turner Syndrome
    Bianco, Bianca
    Lipay, Monica
    Guedes, Alexis
    Oliveira, Kelly
    Verreschi, Ieda T. N.
    INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY, 2009, 28 (02) : 197 - 202
  • [30] Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis Syndrome
    Isidor, Bertrand
    Capito, Carmen
    Paris, Francoise
    Baron, Sabine
    Corradini, Nadege
    Cabaret, Blandine
    Leclair, Marc-David
    Giraud, Mathilde
    Martin-Coignard, Dominique
    David, Albert
    Sultan, Charles
    Le Caignec, Cedric
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (09): : 3467 - 3471
12345