Case Report: Unveiling the enigma: a rare male neonatal case of MIRAGE syndrome with female external genital presentation and literature review - Takeaways - MDSpire

Case Report: Unveiling the enigma: a rare male neonatal case of MIRAGE syndrome with female external genital presentation and literature review

  • By

  • Shuyan Li

  • Fangjian Gao

  • Xiaojuan Lin

  • Dongmei Wang

  • Shuangquan Gao

  • Yu Ding

  • Jianwu Qiu

  • June 12, 2026

  • 0 min

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  • 1

    MIRAGE syndrome is a severe congenital disorder caused by variants in the SAMD9 gene, affecting multiple systems.

  • 2

    The case study presents a male neonate with a 46,XY karyotype exhibiting female external genitalia and various health complications.

  • 3

    Key clinical features of the neonate included respiratory distress, growth restriction, recurrent infections, and thrombocytopenia.

  • 4

    The infant was delivered preterm via cesarean section due to fetal distress and exhibited significant skin pigmentation.

  • 5

    Clinicians should consider MIRAGE syndrome in newborns with unexplained growth restriction and ambiguous genitalia, recommending genetic testing.

Original Source(s)

Case Report: Unveiling the enigma: a rare male neonatal case of MIRAGE syndrome with female external genital presentation and literature review

  • by Shuyan Li, Fangjian Gao, Xiaojuan Lin, Dongmei Wang, Shuangquan Gao, Yu Ding, Jianwu Qiu

  • June 12, 2026

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