Is hypospadias a spectrum of different diseases? MAMLD1 gen: A new candidate gene for hypospadias

Hypospadias is the result of an abnormal development of the urethra causing an ectopic and more proximal placement of the meatus in the ventral side of the penis. Recent molecular studies, and a better understanding of the normal development of the genital tubercle, have demonstrated a complex interaction between genes, hormones and the environment with the development of hypospadias. It is possible that hypospadias is the phenotypic expression of different diseases. Recently a new candidate gene for hypospadias has been discovered, called MAMLD1, which is involved in the normal production of testosterone during fetal development.