ArticleFrontiers in pediatrics2026
Case Report: Unveiling the enigma: a rare male neonatal case of MIRAGE syndrome with female external genital presentation and literature review.
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: MIRAGE syndrome is a severe congenital disease affecting multiple systems, caused by functional variants in the Case presentation: This article reports a sporadic case of neonatal MIRAGE syndrome confirmed by genetic diagnosis. The patient had a 46, XY karyotype and presented predominantly with female external genitalia, along with preterm birth, respiratory distress, growth restriction, recurrent infections, skin pigmentation, feeding difficulties, thrombocytopenia, anemia, and other manifestations. Conclusion: In clinical practice, when encountering newborns with unexplained premature birth, growth restriction, thrombocytopenia, recurrent infections, and a karyotype of 46, XY but with female or ambiguous external genitalia, clinicians can, based on the experience from this case, differentiate from MIRAGE syndrome and may further perform genetic testing to clarify the etiology.
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