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
  • [41] A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3β-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians:: Evaluation of gonadal function after puberty
    Alos, N
    Moisan, AM
    Ward, L
    Desrochers, M
    Legault, L
    Leboeuf, G
    Van Vliet, G
    Simard, J
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (05): : 1968 - 1974
  • [42] Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development
    Phelan, Niamh
    Williams, Emma L.
    Cardamone, Stefanie
    Lee, Marilyn
    Creighton, Sarah M.
    Rumsby, Gill
    Conway, Gerard S.
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2015, 172 (06) : 745 - 751
  • [43] HYPERTENSION AND ABSENT SEXUAL DEVELOPMENT IN A 46XY PHENOTYPIC FEMALE WITH 17-ALPHA HYDROXYLASE DEFICIENCY
    BUCHTA, R
    JONES, KL
    PEDIATRIC RESEARCH, 1990, 27 (04) : A3 - A3
  • [44] 17β-hydroxysteroid dehydrogenase-3 deficiency:: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
    Boehmer, ALM
    Brinkmann, AO
    Sandkuijl, LA
    Halley, DJJ
    Niermeijer, MF
    Andersson, S
    de Jong, FH
    Kayserili, H
    de Vroede, MA
    Otten, BJ
    Rouwé, CW
    Mendonça, BB
    Rodrigues, C
    Bode, HH
    de Ruiter, PE
    Delemarre-van de Waal, HA
    Drop, SLS
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (12): : 4713 - 4721
  • [45] 17-beta hydroxysteroid dehydrogenase 3 deficiency in 1 month old infant
    Mathew, Deepa
    Speiser, Phyllis
    Panayiotopoulos, Aristotle
    Pisani, Laura
    HORMONE RESEARCH IN PAEDIATRICS, 2020, 93 : 41 - 42
  • [46] Clinical, Laboratory and Molecular Genetic Findings of Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency
    Poyrazoglu, Sukran
    Toksoy, Guven
    Aghayev, Agharza
    Karaman, Birsen
    Avci, Sahin
    Altunoglu, Umut
    Kardelen, Al Asli Derya
    Ozturan, Esin Karakilic
    Bas, Firdevs
    Basaran, Seher
    Uyguner, Oya
    Darendeliler, Feyza
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 562 - 562
  • [47] Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis
    Tang, Ruiyi
    Liu, Xiao
    Pan, Lingya
    Chen, Rong
    FERTILITY AND STERILITY, 2019, 111 (06) : 1226 - +
  • [48] 17 B-Hydroxysteroid Dehydrogenase Type 3 Deficiency Diagnosed in Early Childhood
    Oner, Ganimet
    Doger, Esra
    Kayhan, Gulsum
    Camurdan, Mahmut Orhun
    Bideci, Aysun
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 393 - 393
  • [49] 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
  • [50] Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency
    Folsom, Lisal J.
    Hjaige, Mariam
    Liu, Jiayan
    Eugster, Erica A.
    Auchus, Richard J.
    MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2019, 489 : 3 - 8
12345