Microscopic Müllerian Duct Remnants in a 46,XY Individual with Genetically Confirmed 17α-Hydroxylase/17,20-Lyase Deficiency: an Unexpected Histopathological Finding

, together with additional genes relevant to gonadal development and 46,XY disorders of sex development, identified no pathogenic variants, likely pathogenic variants, or variants of uncertain significance. This case expands the clinicopathological spectrum of complete 17α-hydroxylase/17,20-lyase deficiency by demonstrating that microscopic Müllerian duct remnants may persist despite a serum AMH concentration within the expected range, with no molecular explanation identified by targeted genetic analysis.