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山东大学学报 (医学版) ›› 2019, Vol. 57 ›› Issue (3): 117-119.doi: 10.6040/j.issn.1671-7554.0.2019.059

• • 上一篇    

17α-羟化酶缺陷症1例并文献复习

冯肖肖1,付旦2,霍飞2,高冠起2,董庆玉2   

  1. 1. 青岛大学医学部, 山东 青岛 266000;2.临沂市人民医院内分泌科, 山东 临沂 276000
  • 发布日期:2022-09-27
  • 通讯作者: 董庆玉. E-mail:dongqyy@163.com

  • Published:2022-09-27

关键词: 先天性肾上腺皮质增生症, 常染色体隐性遗传病, 17α-羟化酶, 假两性畸形

中图分类号: 

  • R583.9
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[6] 肖俊超,王海莲,许瑞英,等. 17α-羟化酶/17,20-裂解酶缺乏导致男性严重假两性畸形1例[J]. 山东大学学报(医学版),2018,56(12):114-117.
[7] 吴庆华,信艳萍,张毅,等. 17α-羟化酶/17,20-裂解酶缺陷症的诊断及治疗效果探讨[J]. 中华妇产科杂志,2015,50(2):140-143. WU Qinghua,XIN Yanping,ZHANG Yi,et al. Discussion on the diagnosis and treatment of 17α-hydroxylase/17,20-lyase deficiency[J]. Chin J Obstet Gynecol,2015,50(2):140-143.
[8] Dhir V, Reisch N, Bleicken CM, et al. Steroid 17α-hydroxylase deficiency: functional characterization of four mutations(A174E, V178D, R440C, L465P)in TheCYP17A1Gene[J]. J Clin Endocrinol Metab, 2009, 94(8): 3058-3064.
[9] Oh YK, Ryoo U, Kim D, et al. 17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development[J]. J Pediatr Adolesc Gynecol, 2012, 25(5): e103-e105. doi:10.1016/j.jpag.2012.05.008.
[10] 王志芳, 崔西春, 范应中, 等. 17α羟化酶缺陷症致男性性发育异常内外科联合治疗探讨[J]. 中华小儿外科杂志, 2016, 37(7): 507-511. WANG Zhifang, CUI Xichun, FAN Yingzhong, et al. Medico-surgical treatment of 46, XY disorders of sex development due to 17-hydroxylation deficiency[J]. Chinese Journal of Pediatric Surgery, 2016, 37(7): 507-511.
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[1] 肖俊超,王海莲,许瑞英,邵鸿家, 葛伟. 17-α羟化酶/17,20-裂解酶缺乏导致男性严重假两性畸形1例[J]. 山东大学学报 (医学版), 2018, 56(12): 114-117.
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