Endocrine Abstracts

Disorders of sex development (DSD) can occur as a single gene disorder, a multifactorial disorder, and an imprinting/epigenetic disorder. Here, I will report our recent progress on two causative genes for DSD.MAMLD1: Mastermind domain containing gene 1We have reported that MAMLD1 is a causative gene for hypospadias, a mild form of 46,XY DSD. This is primarily based on the identification of several pathologic mutations of MAMLD1 in ...