NR5A1 and hypospadias: Baetens et al. [26] reported an NR5A1 mutation in a proband with hypospadias and in his asymptomatic mother (regular menses at 30 years of age), maternal aunt (who had been diagnosed with primary ovarian insufficiency at 35), and maternal grandfather (who had been operated on for proximal hypospadias but spontaneously fathered the two girls).