A Turkish Family with 46,XY Disorder of Sex Development Due to 17b-Hydroxysteroid Dehydrogenase Type 3 Deficiency

被引:0
|
作者
Gurbuz, Fatih [1 ]
Turan, Ihsan [1 ]
Tastan, Mehmet [1 ]
Yuksel, Bilgin [1 ]
机构
[1] Cukurova Univ, Pediat Endocrinol, Adana, Turkey
来源
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-P336
引用
收藏
页码:582 / 582
页数:1
相关论文
共 50 条
  • [31] A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency
    Idkowiak, Jan
    Randell, Tabitha
    Dhir, Vivek
    Patel, Pushpa
    Shackleton, Cedric H. L.
    Taylor, Norman F.
    Krone, Nils
    Arlt, Wiebke
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (03): : E465 - E475
  • [32] Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
    de Calais, Flavia Leme
    Soardi, Fernanda Caroline
    Petroli, Reginaldo Jose
    Gori Lusa, Ana Leticia
    de Paiva e Silva, Roberto Benedito
    Maciel-Guerra, Andrea Trevas
    Guerra-Junior, Gil
    de Mello, Maricilda Palandi
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2011, 12 (12): : 9471 - 9480
  • [33] 46,XY Disorder of sex development (46,XY DSD) due to two new mutations of the luteinizing hormone receptor gene
    Unruh, Annette Richter
    Post, Miriam Verhoef
    Holterhus, Paul Martin
    Hiort, Olaf
    Themmen, Axel
    HORMONE RESEARCH, 2006, 65 : 113 - 114
  • [34] 46,XY DISORDER OF SEX DEVELOPMENT DUE TO LHCGR COPY LOSS IN AOH REGION
    Custodio, Sonia
    Raquel
    Eva, Rodrigues
    Rosario, Rolo
    Patricia, Silveira-Santos
    Ana, Dias
    Sousa, Sousa Ana B.
    MEDICINE, 2023, 102 (13)
  • [35] 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
  • [36] 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
  • [37] A multidisciplinary approach in a two generation family presenting with a 46,XY disorder of sex development
    Soares, A. R.
    Borges, T.
    Fernandes, E.
    Teles, N. O.
    Goncalves, A.
    Oliveira, M. E.
    Santos, R.
    Fortuna, A. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 822 - 822
  • [38] 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
  • [39] Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency
    von Spreckelsen, Benedikte
    Aksglaede, Lise
    Johannsen, Trine Holm
    Nielsen, John E.
    Main, Katharina M.
    Jorgensen, Anne
    Jensen, Rikke Beck
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (07): : 953 - 961
  • [40] 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in Three Adult Iranian Siblings
    Omrani, M. D.
    Adamovic, T.
    Grandell, U.
    Saleh-Gargari, S.
    Nordenskjold, A.
    SEXUAL DEVELOPMENT, 2011, 5 (06) : 273 - 276