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
来源：
SEXUAL DEVELOPMENT | 2022年 / 16卷 / SUPPL 1期
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
  • [21] Rare Cause of 46,XY Sexual Development Disorder: 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency
    Manyas, Hayrullah
    Filibeli, Berna Eroglu
    Ayranci, Ilkay
    Guvenc, Merve Saka
    Dundar, Bumin Nuri
    Catli, Gonul
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 600 - 600
  • [22] 46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
    Mendonca, Berenice B.
    Gomes, Nathalia Lisboa
    Costa, Elaine M. F.
    Inacio, Marlene
    Martin, Regina M.
    Nishi, Mirian Y.
    Carvalho, Filomena Marino
    Tibor, Francisco Denes
    Domenice, Sorahia
    JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2017, 165 : 79 - 85
  • [23] Decision-making regarding orchiectomy in patients with 17-beta-hydroxysteroid dehydrogenase type 3 deficiency: Clinical considerations
    Pennesi, Christine
    Yu, Lissa
    SEXUAL DEVELOPMENT, 2022, 16 (SUPPL 1) : 70 - 71
  • [24] 17β-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17βHSD3 gene
    Alikasifoglu, Ayfer
    Hiort, Olaf
    Gonc, Nazli
    Demirbilek, Huseyin
    Isik, Emregul
    Kandemir, Nurgun
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2012, 25 (5-6): : 561 - 563
  • [25] Clinical spectrum of congenital adrenal hyperplasia due to 3 beta hydroxysteroid dehydrogenase deficiency; A case series
    Shaheen, Tahir
    Aftab, Sommayya
    Nadeem, Muhammad
    Saeed, Anjum
    Arshad, Huma
    HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 198 - 199
  • [26] Genetic Testing Is Essential for the Rapid Diagnosis of 17β-Hydroxysteroid Dehydrogenase (17βHSD) Deficiency Type 3 in a Complete 46,XY
    Grimbly, Chelsey
    Caluseriu, Oana
    Metcalfe, Peter
    Jetha, Mary M.
    Rosolowsky, Elizabeth T.
    ENDOCRINE REVIEWS, 2014, 35 (03)
  • [27] Identification of 3β-hydroxysteroid dehydrogenase type II deficiency in a patient with autoimmune Addison's disease
    Aslaksen, Sigrid
    Methlie, Paal
    Wolff, Anette S. Boe
    Oftedal, Bergithe E.
    Husebye, Eystein S.
    Bratland, Eirik
    SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 2019, 90 (06)
  • [28] Histological Progression and Malignancy Risk in 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency: Insights from Infancy to Adulthood
    Wang, Yunpeng
    Zhu, Jing
    Zhu, Min
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 524 - 524
  • [29] Complexities of diagnosis in 17-beta-hydroxysteroid dehydrogenase deficiency and implementation of next generation sequencing in guiding management decisions - Case series of six patients
    Taylor-Miller, Tashunka
    Barton, John S.
    Burren, Christine P.
    Woodward, Mark
    Alderson, Julie
    Crowne, Elizabeth C.
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 479 - 479
  • [30] MOLECULAR ANALYSIS OF TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE IN JAPANESE PATIENTS WITH CLASSICAL 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY
    TAJIMA, T
    FUJIEDA, K
    NAKAE, J
    SHINOHARA, N
    YOSHIMOTO, M
    BABA, T
    KINOSHITA, E
    IGARASHI, Y
    OOMURA, T
    HUMAN MOLECULAR GENETICS, 1995, 4 (05) : 969 - 971
12345