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46,XY性发育异常儿童小阴茎的诊治进展 被引量:3

Assessment and management of 46,XY disorders of sexual development
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摘要 小阴茎是46,XY性发育异常儿童常见的临床表现。由于病因复杂,儿童期诊断手段有限,有些患者很难明确病因。下丘脑一垂体.性腺轴及雄激素合成和转化过程中任何一个环节出现异常皆会影响阴茎的发育。通过对近年的阴茎统计数据进行比较,试图找到适合临床应用的参考数据,用于小阴茎的诊断。对于按男性抚养的患儿,改善阴茎外观的治疗包括药物治疗和手术治疗。外源性雄激素和绒毛膜促性腺激素治疗是主要方法,其可有效刺激发育不全的阴茎生长,但合适的治疗时机、剂量、是否有不良反应等并未达成共识。手术治疗可改善尿道下裂所致阴茎外形异常和重建尿道。促性腺激素的治疗可应用于有生育要求的患者。对于社会性别女性的患者,需要切除男性性腺,并在青春期开始后进行雌激素替代治疗。 Micropenis is one of clinical manifestations of 46,XY disorders of sex development. Due to the com- plex etiology, the limitation of diagnostic methods, it is difficult to define the causes in some complicated cases. The ab- normality in any part of the hypothalamic pituitary gonadal axis, androgen synthesis and function will influence the de- velopment of penis. Based on the statistical data of penis in comparison, trying to find the reference data for clinical ap- plication,used in the diagnosis of micropenis. For the patient raise a boy, the treatment including medicine and opera- tion to improve the size of penis. Exogenous androgen and human chorionic gonadotrophin (HCG) treatment are the main methods in present,it can effectively promote the micropenis to increase in size. But it is debatable when to start the treatment, dosage and the duration. The potential side effects are unknown. Operation treatment can improve the hy- pospadias induced abnormal appearance and reconstruction of urethra. Treatment of gonadotropin can be applied to the patients who want to acquire fertility. For patients reared as female, male gonads must be removed, and estrogen replace- ment administered after adolescent.
出处 《中华实用儿科临床杂志》 CAS CSCD 北大核心 2013年第23期1831-1834,共4页 Chinese Journal of Applied Clinical Pediatrics
关键词 46 XY性发育异常 小阴茎 病因学 诊断 46, XY disorders of sex development Micropenis Etiology Diagnosis
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  • 1邓汪东,蒋学武.先天性小阴茎治疗进展[J].中华小儿外科杂志,2006,27(8):428-430. 被引量:11
  • 2黄海燕,张香改,高羽,陈拽生,谭凤钦,刘杰.117例大小Y染色体临床意义分析[J].中国计划生育学杂志,2007,15(2):105-107. 被引量:37
  • 3Kashimada K,Koopman P. Sry : the master switch in mammalian sexdetermination[ J]. Development, 2010,137 (23 ) : 3921-3930. DOI:10.1242/dev.048983. 被引量:1
  • 4Wilhelm D, Washburn LL,Truong V,et al. Antagonism of the testis-and ovary-determining pathways during ovotestis development inmice[J]. Mech Dev, 2009,126 (5-6) : 324-336. DOI: 10. 1016/j.mod. 2009.02.006. 被引量:1
  • 5Helszer Z, Dmochowska A, Szemraj J, et al. A novel mutation ( c.341A >G)in the SRY gene in a46,XY female patient with gonadaldysgenesis[ J]. Gene, 2013, 526 ( 2 ) : 467470. DOI: 10. 1016/j.gene. 2013.04.027. 被引量:1
  • 6Chen L,Ding XP,Wei X, et al. Investigation of mutations in theSRY, SOX9, and DAX1 genes in sex reversal patients from the Si-chuan region of China[ J]. Genet Mol Res,2014,13(1) : 1518-1526.DOI :10.4238/2014. March. 12.4. 被引量:1
  • 7Li Y, Zheng M,Lau YF. The Sex-determining factors SRY andSOX9 regulate similar target genes and promote testis cord formationduring testicular differentiation [J]. Cell ,2014,8(3) :723-733. DOI:10.1016/j. celrep. 2014.06.055. 被引量:1
  • 8Benko S,Gordon CT,Mallet D, et al. Disruption of a long distanceregulatory region upstream of SOX9 in isolated disorders of sex de-velopment[ J]. J Med Genet,2011,48(12) :825-830. DOI:10.1136/jmedgenet-2011 -100255. 被引量:1
  • 9Sekido R,Lovell-Badge R. Sex determination involves synergistic ac-tion of SRY and SF1 on a specific Sox9 enhancer [ J ]. Nature ,2008,453(7197) :930-934. DOI: 10.1038/nature06944. 被引量:1
  • 10Knower KC,Kelly S,Ludbrook LM, et al. Failure of SOX9 regula-tion in 46 XY disorders of sex development with SRY, SOX9 and SF1mutations [J]. PLoS One,2011,6(3) :el7751. DOI: 10. 1371/jour-nal. pone. 0017751. 被引量:1

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