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

BACKGROUND: MIRAGE syndrome is a severe congenital disease affecting multiple systems, caused by functional variants in the SAMD9 gene. It is characterized by myelodysplasia, infections, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. There are few reports of neonatal MIRAGE syndrome. This study presents a rare case of 46,XY karyotype with distinct female external genitalia phenotype and provides a comprehensive literature review of infants under 1 year of age diagnosed with MIRAGE syndrome caused by SAMD9 gene mutations.

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.