尿道下裂相关基因研究进展

Genes associated with hypospadias: An update

尿道下裂是一种常见的男性先天性生殖器畸形,主要表现为患者尿道开口部位异常。造成这种异常的病因有很多种,主要包括遗传、内分泌及环境因素。近年来国内外有关尿道下裂遗传因素的研究很多,通过基因多态性及流行病学研究,发现了大量的与尿道下裂有关的基因。这些基因主要包括与阴茎形成相关的一些基因、与睾丸发育有关的基因、与雄激素合成代谢有关的基因及其他一些基因。本文主要就近年来有关尿道下裂基因研究的进展进行综述。

Hypospadias is one of the most common congenital malformations,and its main clinical manifestation is the abnormal opening of the urethra. Etiologically,it can be attributed to many factors,mainly including genetic,hormonal,and environmental factors. Recently studies about its genetic etiologies have found a variety of hypospadias-associated genes from the aspects of epidemiology and polymorphism,mainly those involving the formation of the penis,the development of the testis,the anabolism of androgens,and so on. This review focuses on the progress in the studies on the genetic etiology of hypospadias.