A Pitfall of Adrenal Hypoplasia Congenita

被引:0
|
作者
Abe, Jiro [1 ,2 ,4 ]
Tsubaki, Junko [2 ]
Shimura, Kazuhiro [3 ]
Hasegawa, Tomonobu [3 ]
机构
[1] Univ Cambridge, Dept Med, Cambridge, Cambs, England
[2] JCHO Hokkaido Hosp, Dept Pediat, Sapporo, Japan
[3] Keio Univ Hosp, Dept Pediat, Tokyo, Japan
[4] Univ Cambridge, Addenbrookes Hosp, Dept Med, Hills Rd, Cambridge CB20QQ, Cambs, England
关键词
GENE;
D O I
10.1177/00099228231222714
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:1318 / 1320
页数:3
相关论文
共 50 条
  • [41] Precocious puberty in a patient with X linked adrenal Hypoplasia congenita due to DAX 1 mutation
    Darcan, Sukran
    Tanryverdi, Sema
    Ozen, Samim
    Goksen, Damla
    Durmaz, Burak
    Ozkinay, Ferda
    HORMONE RESEARCH, 2008, 70 : 237 - 238
  • [42] A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita
    Lalli, E
    Bardoni, B
    Zazopoulos, E
    Wurtz, JM
    Strom, TM
    Moras, D
    SassoneCorsi, P
    MOLECULAR ENDOCRINOLOGY, 1997, 11 (13) : 1950 - 1960
  • [43] Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita
    Reutens, AT
    Achermann, JC
    Ito, M
    Ito, M
    Gu, WX
    Habiby, RL
    Donohoue, PA
    Pang, SY
    Hindmarsh, PC
    Jameson, JL
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (02): : 504 - 511
  • [44] Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita
    Bansal, Shipra
    Castells, Salvador
    Umpaichitra, Vatcharapan
    Perez-Colon, Sheila
    HORMONE RESEARCH IN PAEDIATRICS, 2015, 84 (06): : 408 - 413
  • [45] Dax-1 (NROB1) Mutation with Adrenal Hypoplasia Congenita & Hypogonadotropic Hypogonadism
    Dardi, Inderpreet K.
    Jabbour, Serge A.
    ENDOCRINE REVIEWS, 2014, 35 (03)
  • [46] Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
    Choi, Han Saem
    Kwon, Ahreum
    Chae, Hyun Wook
    Suh, Junghwan
    Song, Kyung Chul
    Lee, Jin-Sung
    Kim, Ho-Seong
    ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 26 (02) : 126 - 129
  • [47] Complex glycerol kinase deficiency: An X-linked disorder associated with adrenal hypoplasia congenita
    Sehgal A.
    Stack J.
    The Indian Journal of Pediatrics, 2005, 72 (1) : 67 - 69
  • [48] Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1
    Achermann, JC
    Silverman, BL
    Habiby, RL
    Jameson, JL
    JOURNAL OF PEDIATRICS, 2000, 137 (06): : 878 - 881
  • [49] ADRENAL HYPOPLASIA
    SZALAY, GC
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 1973, 59 (01) : 120 - 120
  • [50] ADRENAL HYPOPLASIA
    WINQUIST, PG
    ARCHIVES OF PATHOLOGY, 1961, 71 (01): : 324 - &