Frasier syndrome with 46,XY gonadal dysgenesis diagnosed during etiological evaluation of nephrotic syndrome: A case report

被引：0
|
作者：
Yanik, Hasan [1 ]
Koc, Cansu [1 ]
Sonmez, Ferah [2 ]
Uyanik, Bulent [3 ]
Al, Asli Derya Kardelen [1 ]
Yildiz, Melek [1 ]
Poyrazoglu, Sukran [1 ]
Bas, Firdevs [1 ]
Darendeliler, Feyza [1 ]
机构：
[1] Istanbul Univ, Dept Pediat Endocrinol, Istanbul Fac Med, Istanbul, Turkiye
[2] Bezmialem Vakif Univ, Dept Pediat Nephrol, Fac Med, Istanbul, Turkiye
[3] Bezmialem Vakif Univ, Dept Genet, Fac Med, Istanbul, Turkiye
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2024年 / 97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：
P2-263
引用
收藏
页码：456 / 456
页数：1
相关论文
共 50 条
  • [31] Frasier syndrome in a patient with 46XY testicular dysgenesis, nephrotic syndrome of the infancy and a IVS9+5G > A mutation in the WT1 gene
    Costanzo, M.
    Gil, S.
    Balestracci, A.
    Saraco, N.
    Marino, R.
    Rivarola, M.
    Caletti, M.
    Belgorosky, A.
    HORMONE RESEARCH, 2008, 70 : 19 - 19
  • [32] NEOPLASIA IN XY GONADAL-DYSGENESIS (SWYER SYNDROME)
    SPINGLER, H
    ALBERT, PJ
    SCHMID, M
    MULLER, J
    GEBURTSHILFE UND FRAUENHEILKUNDE, 1990, 50 (06) : 488 - 490
  • [33] Early recognition of gonadal dysgenesis in congenital nephrotic syndrome
    Ukarapong, Supamit
    Berkovitz, Gary
    McElreavey, Kenneth
    Bashamboo, Anu
    Bao, Yong
    CLINICAL NEPHROLOGY, 2016, 86 (06) : 341 - 344
  • [34] Primary amenorrhoea: Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and late presentation
    Chrysostomou, A.
    SAJOG-SOUTH AFRICAN JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2015, 21 (01): : 16 - 17
  • [35] Video-assisted gonadectomy in children with Ullrich Turner syndrome or 46,XY gonadal dysgenesis
    Tröbs, RB
    Hoepffner, W
    Bühligen, U
    Limbach, A
    Keller, E
    Schütz, A
    Horn, LC
    Kiess, W
    Bennek, J
    EUROPEAN JOURNAL OF PEDIATRIC SURGERY, 2004, 14 (03) : 179 - 184
  • [36] 46 XY PURE GONADAL-DYSGENESIS (SWYERS SYNDROME) WITH GONADOBLASTOMA, DYSGERMINOMA AND EMBRYONAL CARCINOMA
    BENROMDHANE, K
    BESSROUR, A
    BENAMOR, MS
    BENAYED, M
    BULLETIN DU CANCER, 1988, 75 (03) : 263 - 269
  • [37] A NEW FAMILIAL SYNDROME OF 46,XY GONADAL-DYSGENESIS WITH ANOMALIES OF ECTODERMAL AND MESODERMAL STRUCTURES
    BROSNAN, PG
    LEWANDOWSKI, RC
    TOGURI, AG
    PAYER, AF
    MEYER, WJ
    JOURNAL OF PEDIATRICS, 1980, 97 (04): : 586 - 590
  • [38] Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation
    Karimian, Negar
    Ghadakzadeh, Saber
    Eshraghi, Mahdi
    FERTILITY AND STERILITY, 2010, 93 (01) : 267.e13 - 267.e14
  • [39] Frasier syndrome: A case report
    Trelis-Blanes, A.
    Romeu-Villarroya, M.
    Renard-Meseguer, J.
    Monzo-Miralles, A. M.
    CLINICA E INVESTIGACION EN GINECOLOGIA Y OBSTETRICIA, 2023, 50 (02):
  • [40] Frasier syndrome: A case report
    Ponce Gambini, J.
    Loza Munarriz, R.
    Ynguil Munoz, A.
    Cok Garca, J.
    PEDIATRIC NEPHROLOGY, 2016, 31 (10) : 1977 - 1977
12345