ArticleFrontiers in pediatrics2026
Case Report: Mixed gonadal dysgenesis with Müllerian remnants mimicking a prostatic utricle in a child with 45,X/46,XY/47,XYY mosaicism.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Sex-chromosome mosaicism can cause discordant gonadal, ductal, and external genital development. Persistent Müllerian derivatives are classically associated with defects in anti-Müllerian hormone (AMH) production or AMH receptor type 2 (AMHR2) signaling in otherwise normally virilized 46,XY individuals, termed persistent Müllerian duct syndrome (PMDS). In complex mosaicism, however, Müllerian persistence may reflect mixed gonadal dysgenesis (MGD). Case presentation: A male-reared child presented with marked short stature, severe proximal hypospadias, ventral chordee, penoscrotal transposition, an empty left hemiscrotum, and a palpable right testis. At 2 years and 2 months, his height was 77.5 cm (<-3 SD). Peripheral-blood fluorescence Conclusion: This case is most appropriately interpreted as 45,X/46,XY/47,XYY mosaic MGD rather than typical 47,XYY syndrome or classic
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