Case series of 16 patients with 17β-hydroxysteroid dehydrogenase type 3 deficiency at five children's hospitals in the United States

被引:0
|
作者
Finlayson, Courtney [1 ]
Whitehead, J. [1 ]
Mohnach, Lauren [2 ]
Keegan, Catherine [2 ]
机构
[1] Lurie Childrens Hosp, Pediat Endocrinol, Chicago, IL USA
[2] CS Mott Childrens Hosp, Div Clin Genet, Ann Arbor, MI USA
关键词
D O I
暂无
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
PO 51
引用
收藏
页码:87 / 88
页数:2
相关论文
共 50 条
  • [1] Identification of a Novel Mutation in an Iranian Family With 17-β Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Series
    Heidari, Abolfazl
    Homaei, Ali
    Saffari, Fatemeh
    JOURNAL OF PEDIATRICS REVIEW, 2022, 10 (01) : 61 - 65
  • [2] Psychosocial Adjustment in Youth with 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency: A Case Series
    Papadakis, Jaclyn L.
    Whitehead, J.
    Johnson, Emilie
    Finlayson, Courtney
    Chen, Diane
    Mohnach, Lauren
    Keegan, Catherine
    Sandberg, David
    SEXUAL DEVELOPMENT, 2022, 16 (SUPPL 1) : 77 - 78
  • [3] 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
  • [4] 17B-hydroxysteroid dehydrogenase type 3 deficiency: An under-recognized cause of 46,XY DSD in the United States?
    Whitehead, J.
    Johnson, Emilie
    Yerkes, Elizabeth
    Chen, Diane
    Leeth, Elizabeth
    Goetsch, Allison
    Finlayson, Courtney
    HORMONE RESEARCH IN PAEDIATRICS, 2020, 93 : 42 - 43
  • [5] Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency
    Telles de Sousa Castro, Carla Cristina
    Guaragna-Filho, Guilherme
    Calais, Flavia Leme
    Coeli, Fernanda Borchers
    Lima Leal, Ianik Rafaela
    Cavalcante-Junior, Erisvaldo Ferreira
    Monlleo, Isabella Lopes
    Ferreira Pereira, Silma Regina
    de Paiva e Silva, Roberto Benedito
    Erbolato Gabiatti, Jose Roberto
    Marques-de-Faria, Antonia Paula
    Maciel-Guerra, Andrea Trevas
    De Mello, Maricilda Palandi
    Guerra-Junior, Gil
    ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2012, 56 (08) : 533 - 539
  • [6] Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
    Hiort, Olaf
    Marshall, Louise
    Birnbaum, Wiebke
    Wuensch, Lutz
    Holterhus, Paul-Martin
    Doehnert, Ulla
    Werner, Ralf
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 87 (05): : 354 - 358
  • [7] Clinical, endocrine, and molecular findings in 17β -hydroxysteroid dehydrogenase type 3 deficiency
    M. F. Faienza
    L. Giordani
    M. Delvecchio
    L. Cavallo
    Journal of Endocrinological Investigation, 2008, 31 : 85 - 91
  • [8] Clinical, endocrine, and molecular findings in 17β-hydroxysteroid dehydrogenase type 3 deficiency
    Faienza, M. F.
    Giordani, L.
    Delvecchio, M.
    Cavallo, L.
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2008, 31 (01) : 85 - 91
  • [9] 17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review
    Yang, Zuwei
    Ye, Lei
    Wang, Wei
    Zhao, Yu
    Wang, Wencui
    Jia, Huiying
    Dong, Zhiya
    Chen, Yuhong
    Wang, Weiqing
    Ning, Guang
    Sun, Shouyue
    JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2017, 174 : 141 - 145
  • [10] Identification of a novel series of tetrahydrodibenzazocines as inhibitors of 17β-hydroxysteroid dehydrogenase type 3
    Fink, BE
    Gavai, AV
    Tokarski, JS
    Goyal, B
    Misra, R
    Xiao, HY
    Kimball, SD
    Han, WC
    Norris, D
    Spires, TE
    You, D
    Gottardis, MM
    Lorenzi, MV
    Vite, GD
    BIOORGANIC & MEDICINAL CHEMISTRY LETTERS, 2006, 16 (06) : 1532 - 1536