Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients

Abstract

Of 242 patients with 46,XY DSD, 6 patients matched histological testicular features: a reduced number of thin seminiferous tubules and focal aggregations of Leydig cells that contained cytoplasmic lipid droplets. All 6 patients had NR5A1 mutations. These histological features were distinct from those of other DSD. Thus, this unique testicular histology is useful for identifying NR5A1 mutations in 46,XY patients with DSD before puberty.