Novel Mutation in Two Related 46, XY Phenotypic Females with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

被引：0
|
作者：
German, Alina [1 ,2 ,3 ]
Tiosano, Dov [3 ,4 ]
Chertin, Boris [5 ]
Nadeem, Sabea [6 ]
Tenenbaum-Rakover, Yardena [7 ,8 ]
机构：
[1] Bnai Zion Med Ctr, Pediat Dept, Haifa, Israel
[2] Clalit Hlth Serv, Haifa, Israel
[3] Meyer Childrens Hosp, Pediat Endocrine Unit, Haifa, Israel
[4] Technion, Rappaport Fac Med, Haifa, Israel
[5] Shaare Zedek Med Ctr, Pediat Urol, Jerusalem, Israel
[6] Clalit Hlth Serv, Haifa, Northern Region, Israel
[7] HaEmek Med Ctr, Pediat Endocrine Inst, Afula, Israel
[8] Rappaport Fac Med, Haifa, Israel
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90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-P323
引用
收藏
页码：577 / 577
页数：1
相关论文
共 50 条
  • [21] 17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review
    Krishnappa, Brijesh
    Arya, Sneha
    Lila, Anurag R.
    Sarathi, Vijaya
    Memon, Saba S.
    Barnabas, Rohit
    Kumbhar, Bajarang, V
    Bhandare, Vishwambhar V.
    Patil, Virendra
    Shah, Nalini S.
    Kunwar, Ambarish
    Bandgar, Tushar
    CLINICAL ENDOCRINOLOGY, 2022, 97 (01) : 43 - 51
  • [22] 17β-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite
    Mains, Lindsay M.
    Vakili, Babak
    Lacassie, Yves
    Andersson, Stefan
    Lindqvist, Annika
    Rock, John A.
    FERTILITY AND STERILITY, 2008, 89 (01) : 228.e13 - 228.e17
  • [23] 17 beta-hydroxysteroid dehydrogenase 3 deficiency
    Andersson, S
    Russell, DW
    Wilson, JD
    TRENDS IN ENDOCRINOLOGY AND METABOLISM, 1996, 7 (04): : 121 - 126
  • [24] Substitution mutation C268Y causes 17β-hydroxysteroid dehydrogenase 3 deficiency
    Lindqvist, A
    Hughes, IA
    Andersson, S
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (02): : 921 - 923
  • [25] Testosterone Synthesis in Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency
    Werner, R.
    Kulle, A.
    Sommerfeld, I.
    Riepe, F. G.
    Wudy, S.
    Hartmann, M. F.
    Merz, H.
    Doehnert, U.
    Bertelloni, S.
    Holterhus, P. -M.
    Hiort, O.
    SEXUAL DEVELOPMENT, 2012, 6 (04) : 161 - 168
  • [26] Unraveling a case of 46,XY DSD due to 17g-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49
    Garcia, Aubin
    Legendre, Marie
    Chantot-Bastaraud, Sandra
    Siffroi, Jean-Pierre
    Christin-Maitre, Sophie
    ANNALES D ENDOCRINOLOGIE, 2023, 84 (02) : 260 - 264
  • [27] 17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence
    Bertelloni, S.
    Balsamo, A.
    Giordani, L.
    Fischetto, R.
    Russo, G.
    Delvecchio, M.
    Gennari, M.
    Nicoletti, A.
    Maggio, M. C.
    Concolino, D.
    Cavallo, L.
    Cicognani, A.
    Chiumello, G.
    Hiort, O.
    Baroncelli, G. I.
    Faienza, M. F.
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2009, 32 (08) : 666 - 670
  • [28] 17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence
    S. Bertelloni
    A. Balsamo
    L. Giordani
    R. Fischetto
    G. Russo
    M. Delvecchio
    M. Gennari
    A. Nicoletti
    M. C. Maggio
    D. Concolino
    L. Cavallo
    A. Cicognani
    G. Chiumello
    O. Hiort
    G. I. Baroncelli
    M. F. Faienza
    Journal of Endocrinological Investigation, 2009, 32 : 666 - 670
  • [29] A Case of 46,XY DSD Due to a Novel Mutation in the HSD17B3 Gene
    Petroli, R. J.
    Soardi, F. C.
    Mazzola, T.
    Michelato, Dd P.
    Vieira Goes, L. C.
    Lima do Nascimento, D. L.
    Palandi de Mello, M.
    Lopes Monlleo, I
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 61 - 61
  • [30] The design of novel 17β-hydroxysteroid dehydrogenase type 3 inhibitors
    Vicker, Nigel
    Sharland, Christopher M.
    Heaton, Wesley B.
    Gonzalez, Ana M. Ramos
    Bailey, Helen V.
    Smith, Andrew
    Springall, Jeremy S.
    Day, Joanna M.
    Tutill, Helena J.
    Reed, Michael J.
    Purohit, Atul
    Potter, Barry V. L.
    MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2009, 301 (1-2) : 259 - 265
12345