摘要
先天性外生殖器发育异常是临床上一类复杂问题,不仅涉及生殖系统的近远期结构和功能,也与个体及家庭的心理社会因素密切相关。据统计由此导致性别难以确定的发生率是1/4500,而一定程度的男性化不足或女性男性化在存活婴儿中则高达2%。近年来由于许多尚未完全明了的原因如环境雌激素类物质等的影响使得它的发生在全球范围内均呈现不同程度的增加趋势,有关研究进展也很快,包括许多传统的认识和诊疗观念等都正在发生很大的变化,尽管目前有关的治疗策略还不尽统一,但其需要早期评定则为大家所普遍认同,本文对近年来先天性外生殖器发育异常的早期评定作以下综述。
出处
《临床小儿外科杂志》
CAS
2008年第5期53-56,共4页
Journal of Clinical Pediatric Surgery
基金
国家自然科学基金项目
项目号30571935
参考文献24
-
1[1]Blackless M,Charuvastra A,Derryck A,et al.How sexually dimorphic are we?[J].Am J Hum Biol,2000,12:151-66.
-
2[2]Nef S,Shipman T,Parada LF.A molecular basis for estrogen-Induced cryptorchidism[J].Dev Biol,2000,224(2):354-361.
-
3[3]Ricardo Gonza,lez and Lisandro A.Piaggio Ambiguous genitalia[J].Curt Opin Urol,2006,16:273-276
-
4[4]Leuan A.Hughes Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development[J].Best Practice & Research Clinical Endocrinology & Metabolism,2007,21(3):351-365.
-
5蒋学武,张升敏.先天性性别异常的临床诊断[J].实用儿科临床杂志,2007,22(23):1834-1836. 被引量:5
-
6[6]L Rangecroft.Surgical management of ambiguous genitalia Arch.Dis[J].Child,2003,88:799-801.
-
7[7]Lian WB,Lee WR,Ho LY.J Pediatr Endocrinol Metab[J]2000,13(1)55.
-
8[9]Y Low、JM Hutson and MURDOCH CHILDRENS RESEARCH INSTITUTE SEX STUDY GROUP Rules for clinical diagnosis in babies with ambiguous genitalia[J].J Paediatr.Child Health,2003,39:406-413.
-
9[10]Conn J,Gillam L & Conway GS.Revealing the diagnosis of androgen insensitivity syndrome in adulthood[J].BMJ (Clinical Research ed),2005,331:628-630.
-
10[11]Parma P,Radi O,Vidal V et al.R-spondin I is essential in sex determination,skin differentiation and malignancy[J].Nature Genetics,2006,38:1304-1309.
二级参考文献11
-
1Lee MM, Donahoe Pk, Hasegawa T, et al. Mullerian inhibiting substance in human: Normal levels from infancy to adulthood. J Cli Endocrinol Metab, 1996, 81 : 571-576.
-
2Lusting RH, Conte FA, Kogan BA, et al. Ontogeny of gonadotropin secretion in congenital anarchism: Sexual dimorphism vs.syndrome of gonadal dysgenesis and diagnostic consideration. J Urol, 1987,138: 587-591.
-
3Misra M, MacLaughlin DT, Donahoe PK, et al. Measurement of mullerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism.J Cli Endocrinol Metab,2002 87: 3598-3602.
-
4Josso N, Legeai L, Forest MG, et al. An enzyme linked immunoassay for anti-mullerian hormone: Anew tool for the evaluation of testicular function in infants and children. J Cli Endocrinol Metab, 1990,70:23-27.
-
5Hudson PL, Dougas I, Donahoe PK, et al. An immunoassay to detect human mullerian inhibiting substance in males and females during normal development. J Cli Endocrinol Metab, 1990, 70:16-22.
-
6Josso N. Paediatric applications of anti-Mullerian hormone research. Horm Res. 1995, 43:243-248.
-
7Teixeira J, Maheswaran S, Donahoe PK. Mullerian inhibiting substance: An instructive development hormone with diagnostic and possible therapeutic application. Endocrin Rew, 2001,22:657-674.
-
8Misra M, MacLaughlin DT, Donahoe PK, et al. The role of mullerian inhibiting substance in the evaluation of phenotype female patients with mild degrees of virilization. J Cli Endocrinol Metab, 2003,8 : 787-792.
-
9Rey R, Mebarki F, Forest MG, et al. Anti-mullerian hormone in children with androgen insensitivity. J Cli Endocrinol Metab,1994, 79:960-964.
-
10Becker C. Use of serum mullerian inhibiting substance in diagnostic evaluation of cryptorchidism and intersex disorders. Endocro Pract, 2000, 6:411-412.
共引文献11
-
1刘敏,母义明.我国性腺疾病的诊疗现状[J].国际内分泌代谢杂志,2007,27(6):361-364. 被引量:1
-
2李常林,张艳,林少忠,潘冠和,林健庆.抗苗勒氏管激素与男性不育的相关性研究[J].中国实验诊断学,2008,12(7):905-906. 被引量:2
-
3钟军,蒋学武.先天性性别异常的治疗[J].实用儿科临床杂志,2009,24(23):1854-1857. 被引量:1
-
4段守兴,李建宏,蒋学武.46,XY性发育疾病的研究进展[J].中华男科学杂志,2011,17(2):156-159. 被引量:1
-
5祁艳卫(综述),蒋学武(审校).先天性性别异常患儿肿瘤风险的研究进展[J].临床小儿外科杂志,2011,10(3):223-225. 被引量:2
-
6杨新彬,蒋学武.先天性性别异常临床研究方法[J].中国生育健康杂志,2011,22(2):120-122.
-
7刘继龙.抗苗勒氏管激素与男性不育的相关分析[J].河北医药,2012,34(5):715-716. 被引量:6
-
8王帅,姜大朋,李昭铸.苗勒管永存综合征研究进展[J].中华小儿外科杂志,2016,37(1):73-76. 被引量:5
-
9唐达星,付君芬.性别发育异常的新认识及外科选择[J].中华小儿外科杂志,2016,37(7):481-484. 被引量:9
-
10简晓毅,张炽伦,杨海霞,韦剑洪.精浆中抗苗勒氏管激素在男性不育症中的应用研究[J].深圳中西医结合杂志,2017,27(4):58-59. 被引量:1
同被引文献33
-
1崔爱平,孙红,裘灵巧.男性胎儿生殖器超声测值及临床意义[J].中国超声医学杂志,2004,20(11):865-867. 被引量:4
-
2Thuyen U,Lanz K, Holterhus PM, et al. Epidemio|ogy and initial management of ambiguous genitalia at birth in Germany [ J]. Horm Res,2006,66(4) : 195-203.
-
3Lux A, Kmpf S, Kleinemeier E, et al. Clinical evaluation study of the German net work of disorders of sex development( DSD)/inter- sexuality : Study design, description of the study population, and da- ta quality [ J ]. BMC Public Health ,2009,9 : 110.
-
4Hughes IA, Houk C, Ahmed SF, et al. Consensus statement on man- agement of intersex disorders [ J]. J Pediatr Urol,2006,2(3 ) : 148- 162.
-
5leuan A, Hughes. Disorders of sex development: a new definition and classify cation [ J ]. Best Pract Res Clin Endocrinol Metab. 2008,22(I): 119-134.
-
6Creighton SM. Long-term outcome of feminization surgery:the Lon- don experience [ J]. BJU Int,2004,93 (3) : 44-46.
-
7Jtlrgensen M, Hiort O, Holterhus PM,et al. Gender role behavior in children with XY karyotype and disorders of sex development [ J]. Horm Behav ,2007 ,51 (3) : 443-453.
-
8Mazur T. Gender dysphoria and gender change in androgen insensi- tivity or micropenis [J]. Arch Sex Behav,2005,34(4) : 411-421.
-
9Meyer-Bahlburg HF. Gender identity outcome in female-raised 46, XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation [ J]. Arch Sex Behav,2005,34(4) : 423-438.
-
10Reiner WG. Gender identity and sex-of-rearing in children with dis- orders of sexual differentiation [ J ]. J Pediatr EndoerinolMetab, 2005,18(6) : 549-553.
引证文献3
-
1杨新彬,蒋学武.先天性性别异常临床研究方法[J].中国生育健康杂志,2011,22(2):120-122.
-
2刘建君,郭燕丽,薛雅方,段灵敏,王琰,邓凤莲,钟华,方可敬,刘美瑶.产前超声诊断胎儿外生殖器异常[J].中国医学影像技术,2016,32(6):910-913. 被引量:2
-
3王惠.婴儿外生殖器发育异常的门诊调查[J].健康忠告,2020(6):177-177.
二级引证文献2
-
1胡仲任,蔡月云,周萍萍,庄红梅,杨政兴.17例产前超声筛查对诊断胎儿阴茎前阴囊的声像图特征及临床价值分析[J].中国性科学,2018,27(1):106-109. 被引量:2
-
2宋娟,李婷,孙广宏.超声诊断女性假两性畸形1例[J].宁夏医学杂志,2020,42(6):498-498.
-
1陈永生,彭明栋,杨焕南,陈云峰,曾裕华,鞠海宇,王立勃.肾上腺皮质癌的诊断及治疗[J].中国临床医生杂志,2010,38(8):38-39. 被引量:1
-
2雷琼.27例双子宫B型超声诊断分析[J].中国优生与遗传杂志,1997,5(5):94-95. 被引量:2
-
3刘丽.宫腹腔镜联合诊治女性不孕症113例临床观察[J].吉林医学,2014,35(11):2372-2373.
-
4胡道琴.腹腔镜联合宫腔镜诊治女性不孕症的临床应用价值[J].中国当代医药,2013,20(17):55-56. 被引量:9
-
5崔玲强.肝胆管囊腺瘤合并生殖器发育异常1例[J].淮海医药,1997,15(1):60-60.
-
6昭阳.内分泌治疗 让乳腺癌“消停”下来[J].江苏卫生保健(今日保健),2016,0(1):26-27.
-
7邵鹏飞,钱立新,张炜,吴宏飞,睢元庚,徐正铨.肾上腺皮质腺癌的诊断与治疗(附16例报告)[J].实用临床医药杂志,2004,8(3):49-51. 被引量:2
-
8朱华.产科急性DIC20例临床分析[J].中国妇幼保健,2007,22(21):2930-2931. 被引量:3
-
9侯晶.B超对剖宫产史妇女早期妊娠的诊断[J].潍坊医学院学报,2001,23(4):312-312.
-
10李基业,刘成贵,蒋彦永.乳癌细胞DNA倍体水平的意义(文献综述)[J].国外医学(外科学分册),1990,17(1):3-5. 被引量:1