Genomic variants of ATF3 in patients with hypospadias.

Purpose: ATF3, an estrogen responsive gene expressed during genital development, could be implicated in the etiology of hypospadias. ATF3 is up-regulated in the foreskin of patients with hypospadias and is implicated in suppression of the cell cycle, which may interfere with urethral cell growth. We sought to investigate the sequence of ATF3 in patients with hypospadias.

Mutations of CXorf6 are associated with a range of severities of hypospadias.

Objective: Mutations in chromosome X open reading frame 6 (CXorf6), a recently described candidate gene involved in the development of male genitalia, have been found in patients with complex 46,XY disorders of sexual development (46,XY DSD) including micropenis, bifid scrotum, and penoscrotal hypospadias. The objective of this work was to identify genomic variants of CXorf6 in patients with isolated hypospadias, severe or non-severe.

Design And Methods: Forty-one patients with glandular to perineal hypospadias and thirty controls were studied.