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46,XX男性性别逆转综合征二例报告 被引量:2

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摘要 46,XX男性性别逆转综合征是一种少见的性别异常疾病,患者有睾丸,并表现为男性外观,而染色体核型为46,XX。2001和2003年我们分别收治2例,现报告如下。
出处 《中华泌尿外科杂志》 CAS CSCD 北大核心 2009年第4期227-227,共1页 Chinese Journal of Urology
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  • 1肖广惠,熊正刚,赖伏英,陈朝辉,邱洛琳.六例性反转综合征患者的分子遗传学分析[J].Acta Genetica Sinica,1993,20(3):201-205. 被引量:2
  • 2Chen S, Wang G, Wang M. Modified longitudinal preputial island flap urethroplasty. J Urol 1993; 149: 814-6.
  • 3De La Chapelle A,Horting H, Niemi M, Wennstrom J. XX sex chromosomes in a human male: First case. Acta Med Scand 1964; 175: 25-8.
  • 4Dupuy O, Palou M, Mayaudon H, Sarret D, Bordier L, Garcin JM, et al. De La Chapelle syndrome. Presse Med 2001 ; 30:369-72.
  • 5Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G,Fellous M, et al. Human XX males with Y single-copy DNA fragments. Nature 1984; 307: 172-3.
  • 6Jarrah N, E1-Shanti H, Khier A, Obeidat FN, Haddidi A, Ajlouni K. Familial disorder of sex determination in seven individuals from three related sibships. Eur J Pediatr 2000; 159: 912-8.
  • 7Lopez M, Tortes L, Mendez JP, Cervantes A, Perez-Palacios G, Erickson RP, et al. Clinical traits and molecular findings in 46, XX males. Clin Genet 1995; 48: 29-34.
  • 8Xiao G, Xiong Z, Lai F, Chen Z, Qiu L. Molecular genetic analysis on six cases of sex reversal syndrome. Yi Chuan Xue Bao 1993: 20: 201-5.
  • 9Page DC, Brown LG, De La Chapelle A. Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males. Nature 1987; 328: 437-40.
  • 10De la Chapelle A, Hastbacka J, Korhonen T, Maenpaa J. The etiology of XX sex reversal. Reprod Nutr Dev 1990; Suppl 1:39s-49s.

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  • 1柳林,逄力男,杨利丽.46,XX男性表型及遗传学研究进展[J].国外医学(内分泌学分册),2005,25(4):283-285. 被引量:33
  • 2Barthold JS. Disorders of sex differentiation: a pediatric urologist's perspective of new terminology and recommendations [ J]. J Urol, 2011, 185: 393-400.
  • 3Ortenberg J, Oddoux C, Craver R, et al. SRY gene expression in the ovotestes of XX true hermaphrodites [ J]. J Urol, 2002, 167: 1828-1831.
  • 4Kajbafzadeh AM, Nezami BG. Detubularized pedicled vaginal on- lay flap urethroplasty : a new method for hypospadias repair of am- biguous genitalia [ J]. J Urol, 2008, 180: 2159-2166.
  • 5Thomas JC, Brock JW 3rd.Vaginal substitution: attempts to create the ideal replacement [ J]. J Urol, 2007, 178 : 1855-1859.
  • 6Moriya K, Higashiyama H, Tanaka H, et al. Long-term outcome of vaginoplasty with the bilateral labioscrotal flap [ J ]. J Urol, 2009, 182: 1876-1881.
  • 7Wang T, Liu JH, Yang J, et al. 46, XX male sex reversal syn- drome: a ease report and review of the genetic basis [J]. Androlo- gia, 2009, 41: 59-62.
  • 8Lloyd JC, Wiener J5, tSargollo P'G, et al. Contemporary epldemio- logical trends in complex congenital genitourinary anomalies [ J]. J Urol, 2013, 190 (4 Suppl) :1590-1595.
  • 9欧阳海,吴天鹏.男性假两性畸形的病因学分析[J].中华泌尿外科杂志,2008,29(8):564-567. 被引量:8
  • 10孙贻娟,冯云.性发育障碍不孕的诊断及助孕[J].诊断学理论与实践,2012,11(3):234-236. 被引量:3

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