Prevalence and possible causes of hypospadias
Prevalence and possible causes of hypospadias
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DOI：
10.1556/oh.2014.29858
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发表时间：
2014-06-01
期刊：
影响因子：
0.6
通讯作者：
Laszlo, Barkai
中科院分区：
文献类型：
--
作者：
Laszlo, Sagodi;Akos, Kiss;Laszlo, Barkai
尿道下裂是男性外生殖器最常见的先天性畸形。在心脏和循环系统之后，它是男性中第二常见的发育障碍。这是由于男性尿道中线融合缺陷，导致尿道道错位。尿道下裂可能位于远端、内侧和近端。它可能作为一个孤立的缺陷出现，也可能与其他生殖器疾病（一侧或两侧睾丸潴留、小阴茎、阴囊裂）或与其他器官畸形一起发展。在某些情况下，还可能出现综合征形式。遗传因素在早期发育缺陷的发生中起着至关重要的作用，但内分泌和环境因素在尿道下裂的病因中也可能起重要作用。它可能与各种性别和常染色体异常有关。尿道下裂的单基因和染色体原因约占所有病例的30%，而遗传因素仍未知的病例占70%。作者综述了男性外生殖器的发育、尿道下裂的发病率及可能的原因。他们提出，更好地了解该病的发病机制可能有助于预防和降低该病的患病率。
Hypospadias is the most common congenital malformation of the male external genitalia. After the heart and circulatory system, it is the second most common developmental disorder in males. It is due to a midline fusion defect of the male urethra, which results in a misplaced urethral meatus. Hypospadias may be distal, medial and proximal. It may occur as an isolated defect or it may develop together with other genital disorders ( retention of testes in one or both sides, microphallus, bifi d scrotum) or with malformation of other organs. In some cases syndromic forms may also occur. Genetic factors play a crucial role in the occurrence of early developmental defect, but endocrine and environmental factors may also be important in the aetiology of hypospadias. It may be associated with various sex and autosomal chromosomal abnormalities. Monogenic and chromosomal causes of hypospadias accounts for about in 30% of all cases, while genetic factors remain unknown in 70% of cases. The authors summarize the development of the male external genitalia, the prevalence and possible causes of hypospadias. They propose that better understanding of the pathogenesis of the disease may contribute to the prevention and decreased prevalence of the disease.