Work

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

Year: 2026

Type: article

Abstract: , 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.

Source: Journal of Clinical Research in Pediatric Endocrinology

DOI: 10.4274/jcrpe.galenos.2026.2026-3-28