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
来源：
UROLOGIC CLINICS OF NORTH AMERICA | 2010年 / 37卷 / 02期
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
[61]   Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia [J].
Morgan, EA ;
Nguyen, SB ;
Scott, V ;
Stadler, HS .
DEVELOPMENT, 2003, 130 (14) :3095-3109
[62]   Cytochromes P450 .10. Ad4BP/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for the establishment of the reproductive function [J].
Morohashi, KI ;
Omura, T .
FASEB JOURNAL, 1996, 10 (14) :1569-1577
[63]   Mutation of HOXA13 in hand-foot-genital syndrome [J].
Mortlock, DP ;
Innis, JW .
NATURE GENETICS, 1997, 15 (02) :179-180
[64]   Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis [J].
Muroya, K ;
Sasagawa, I ;
Suzuki, Y ;
Nakada, T ;
Ishii, T ;
Ogata, T .
MOLECULAR HUMAN REPRODUCTION, 2001, 7 (05) :409-413
[65]   SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects [J].
Nicoletti, A ;
Baldazzi, L ;
Balsamo, A ;
Barp, L ;
Pirazzoli, P ;
Gennari, M ;
Radetti, G ;
Cacciari, E ;
Cicognani, A .
CLINICAL ENDOCRINOLOGY, 2005, 63 (04) :375-380
[66]   Developmental changes in human fetal testicular cell numbers and messenger ribonucleic acid levels during the second trimester [J].
O'Shaughnessy, P. J. ;
Baker, P. J. ;
Monteiro, A. ;
Cassie, S. ;
Bhattacharya, S. ;
Fowler, P. A. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (12) :4792-4801
[67]  
Öcal G, 2002, J PEDIATR ENDOCR MET, V15, P411
[68]   Endocrine Disruptors in the Workplace, Hair Spray, Folate Supplementation, and Risk of Hypospadias: Case-Control Study [J].
Ormond, Gillian ;
Nieuwenhuijsen, Mark J. ;
Nelson, Paul ;
Toledano, Mireille B. ;
Iszatt, Nina ;
Geneletti, Sara ;
Elliott, Paul .
ENVIRONMENTAL HEALTH PERSPECTIVES, 2009, 117 (02) :303-307
[69]   The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans [J].
Ozisik, G ;
Achermann, JC ;
Jameson, JL .
MOLECULAR GENETICS AND METABOLISM, 2002, 76 (02) :85-91
[70]   Phenylphenols, biphenols, bisphenol-A and 4-tert-octylphenol exhibit α and β estrogen activities and antiandrogen activity in reporter cell lines [J].
Paris, F ;
Balaguer, P ;
Térouanne, B ;
Servant, N ;
Lacoste, C ;
Cravedi, JP ;
Nicolas, JC ;
Sultan, C .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2002, 193 (1-2) :43-49
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