Ságodi László, Kiss Akos, Kiss-Tóth Emőke, Barkai László
Miskolci Egyetem, Egészségügyi Kar Preventív Egészségtudományi Tanszék Miskolc Egyetemváros u. 1. 3515.
Borsod-Abaúj-Zemplén Megyei Kórház és Egyetemi Oktató Kórház Gyermeksebészeti Osztály Miskolc.
Orv Hetil. 2014 Jun 22;155(25):978-85. doi: 10.1556/OH.2014.29858.
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, bifid 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.
尿道下裂是男性外生殖器最常见的先天性畸形。在心脏和循环系统疾病之后，它是男性第二常见的发育障碍。它是由于男性尿道的中线融合缺陷，导致尿道口位置异常。尿道下裂可分为远端型、中间型和近端型。它可能作为孤立的缺陷出现，也可能与其他生殖器疾病（一侧或双侧睾丸未降、小阴茎、阴囊分裂）或其他器官畸形一起发生。在某些情况下，也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关键作用，但内分泌和环境因素在尿道下裂的病因中也可能很重要。它可能与各种性染色体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70%的病例中遗传因素尚不清楚。作者总结了男性外生殖器的发育、尿道下裂的患病率和可能的原因。他们提出，更好地了解该疾病的发病机制可能有助于预防和降低该疾病的患病率。
