Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father

We describe a new heterozygous NR5A1/SF-1 mutation that mainly altered Sertoli cell function. However, this 46,XY disorders of sex development (DSD) boy had no Müllerian derivatives, suggesting normal Sertoli cell function during fetal life. During puberty, Sertoli cell deficiency became more apparent. This is the first report of a progressive and predominant Sertoli cell defect in an XY patient with testicular dysgenesis owing to NR5A1/SF-1 mutation.