Hypospadias: Etiology and Current Research

被引:36
作者
Kalfa, Nicolas [2 ,3 ]
Sultan, Charles [2 ,3 ]
Baskin, Laurence S. [1 ]
机构
[1] Univ Calif San Francisco, Dept Pediat Urol, Ctr Study & Treatment Hypospadias, Parnassus Med Ctr,Childrens Med Ctr, San Francisco, CA 94143 USA
[2] CHU Montpellier, Serv Chirurg & Urol Pediat, Hop Lapeyronie, F-34295 Montpellier 5, France
[3] CHU Montpellier, Serv Hormonol, Hop Lapeyronie, F-34295 Montpellier 5, France
基金
美国国家卫生研究院;
关键词
Hypospadias; Etiology; Genetics; Sex differentiation disorders; Receptors; Androgen; Environment; ANDROGEN RECEPTOR GENE; WILMS-TUMOR GENE; ACTIVATING TRANSCRIPTION FACTOR-3; LINKED MYOTUBULAR MYOPATHY; ESTROGEN-RESPONSIVE GENES; FOOT-GENITAL SYNDROME; SONIC-HEDGEHOG; CANDIDATE GENES; REPRODUCTIVE FUNCTION; EXTERNAL GENITALIA;
D O I
10.1016/j.ucl.2010.03.010
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
Hypospadias is one of the most common congenital defects in humans. The molecular events required in the genitourinary tract for normal development of the external genitalia are just beginning to be elucidated. Identifying the cause of hypospadias may be relevant not only in the field of pediatric urology, but also for worldwide public health. This article discusses the possible causes of hypospadias and the genes and growth factors involved. The potential effects of genetic susceptibility and environmental pollutants are also discussed.
引用
收藏
页码:159 / +
页数:9
相关论文
共 100 条
[31]   Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro [J].
Holterhus, PM ;
Werner, R ;
Struve, D ;
Hauffa, BP ;
Schroeder, C ;
Hiort, O .
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2005, 113 (08) :457-463
[32]  
Hsieh Michael H, 2008, Curr Urol Rep, V9, P137
[33]   Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region [J].
Hu, LJ ;
Laporte, J ;
Kress, W ;
Kioschis, P ;
Siebenhaar, R ;
Poustka, A ;
Fardeau, M ;
Metzenberg, A ;
Janssen, EA ;
Thomas, N ;
Mandel, JL ;
Dahl, N .
HUMAN MOLECULAR GENETICS, 1996, 5 (01) :139-143
[34]  
Huang B, 1999, AM J MED GENET, V87, P349, DOI 10.1002/(SICI)1096-8628(19991203)87:4<349::AID-AJMG13>3.0.CO
[35]  
2-N
[36]   ATF3 upregulation in glia during Wallerian degeneration: differential expression in peripheral nerves and CNS white matter [J].
Hunt, D ;
Hossain-Ibrahim, K ;
Mason, MRJ ;
Coffin, RS ;
Lieberman, AR ;
Winterbottom, J ;
Anderson, PN .
BMC NEUROSCIENCE, 2004, 5 (1)
[37]   Development of cDNA microarray for expression profiling of estrogen-responsive genes [J].
Inoue, A ;
Yoshida, N ;
Omoto, Y ;
Oguchi, S ;
Yamori, T ;
Kiyama, R ;
Hayashi, S .
JOURNAL OF MOLECULAR ENDOCRINOLOGY, 2002, 29 (02) :175-192
[38]   ABNORMAL LUNG DEVELOPMENT AND CLEFT-PALATE IN MICE LACKING TGF-BETA-3 INDICATES DEFECTS OF EPITHELIAL-MESENCHYMAL INTERACTION [J].
KAARTINEN, V ;
VONCKEN, JW ;
SHULER, C ;
WARBURTON, D ;
BU, D ;
HEISTERKAMP, N ;
GROFFEN, J .
NATURE GENETICS, 1995, 11 (04) :415-421
[39]   Mutations of CXorf6 are associated with a range of severities of hypospadias [J].
Kalfa, Nicolas ;
Liu, Benchun ;
Ophir, Klein ;
Audran, Francoise ;
Wang, Ming-Hsieh ;
Mei, Cao ;
Sultan, Charles ;
Baskin, Laurence S. .
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2008, 159 (04) :453-458
[40]   Genomic Variants of ATF3 in Patients With Hypospadias [J].
Kalfa, Nicolas ;
Liu, Benchun ;
Klein, Ophir ;
Wang, Ming-Hsieh ;
Cao, Mei ;
Baskin, Laurence S. .
JOURNAL OF UROLOGY, 2008, 180 (05) :2183-2188