Case report uncovers persistent microscopic Müllerian duct remnants in a 46,XY individual with 17α-hydroxylase deficiency, suggesting mechanisms independent of circulating AMH.
, 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.
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Özyılmaz et al. (2026) studied this question.
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