Case Report: Minipuberty hormonal profile in PPP1R12A-related persistent Müllerian duct syndrome - Takeaways - MDSpire
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Clinical Case Study: Hormonal Profile During Minipuberty in Persistent Müllerian Duct Syndrome Associated with PPP1R12A Mutations

  • By

  • Marie Voide

  • Federico Santoni

  • Lucia Bartoloni

  • Jenny Meylan-Merlini

  • Oliver Sanchez

  • Michael Hauschild

  • Nelly Pitteloud

  • Kanetee Busiah

  • September 15, 2026

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  • 1

    Persistent Müllerian duct syndrome (PMDS) is a rare disorder where Müllerian derivatives persist in 46,XY individuals despite normal masculinization.

  • 2

    A novel heterozygous loss-of-function mutation in PPP1R12A was identified in a neonate with PMDS, suggesting its role in the syndrome.

  • 3

    Endocrine evaluations during minipuberty showed elevated levels of inhibin B, AMH, and testosterone, indicating preserved gonadal function.

  • 4

    At 10 months, hormone levels fell below age-specific reference intervals, suggesting potential Sertoli cell dysfunction.

  • 5

    The findings support the hypothesis that PPP1R12A mutations may affect Müllerian duct development rather than primary gonadal function.

Original Source(s)

Case Report: Minipuberty hormonal profile in PPP1R12A-related persistent Müllerian duct syndrome

  • by Marie Voide, Federico Santoni, Lucia Bartoloni, Jenny Meylan-Merlini, Oliver Sanchez, Michael Hauschild, Nelly Pitteloud, Kanetee Busiah

  • September 15, 2026

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