Low frequency of androgen receptor gene mutations in 46 XY DSD, and fetal growth restriction

Abstract

The severity of genital anomalies in this large cohort of infants with a 'PAIS-like' phenotype did not differentiate their AR status. Almost all the infants born small-for-gestational-age do not have an AR mutation. A category of 'XY DSD and fetal growth restriction, as yet unexplained' should be recognised.