Abstract: Hypospadias, one of the most common congenital malformations in male neonates, is due to abnormal penis and urethral development. It is a highly heterogeneous disorder that is related to multiple factors including genetic factor, hormonal insufficient, maternal and placental factor and environment factor. During the last decade, a tremendous work has been devoted to the molecular genetics of isolated hypospadias including the study of BMP, FGF, HOXA and so on. The related genes covered gender, steroidogenesis and signaling genes. It is necessary to study the biological functions of those genes and potential application in diagnosis by the case-control study with large samples. With the development of sequencing technique, the interaction of gene-gene or gene-environment will be decoded through new exome sequencing and whole genome sequencing, which is helpful for us to understand better the molecular mechanism of hypospadias and to explore the diagnosis markers and therapy targets. In this paper, we review the genetic factors of hypospadias and the research progress.

Key words: Hypospadias, genes, genetic factors, precision medicine