MIRAGE syndrome in a neonate: SAMD9 mutation links 46,XY DSD with multisystem featuresRare syndrome identified in newborn with female genitalia and XY chromosomes

This is a case report with a literature review describing a single neonatal male with 46,XY karyotype and female external genitalia phenotype who was diagnosed with MIRAGE syndrome. The diagnosis was confirmed by the presence of SAMD9 gene mutations. The report details the patient's clinical course, which included preterm birth, respiratory distress, growth restriction, recurrent infections, skin pigmentation, feeding difficulties, thrombocytopenia, and anemia.

The authors synthesize these features to suggest that clinicians should consider MIRAGE syndrome when a neonate presents with premature birth, growth restriction, thrombocytopenia, recurrent infections, and 46,XY karyotype with female or ambiguous genitalia. The literature review component contextualizes this case within previously reported cases of MIRAGE syndrome.

Key limitations include the small sample size of a single case report, which precludes generalizability. No information on follow-up duration, adverse events, or treatment interventions is provided. The report does not establish causality beyond the genetic association.

For clinical practice, this case reinforces the importance of genetic testing for SAMD9 mutations in neonates with suggestive multisystem features and atypical genitalia. However, given the rarity of the syndrome and the evidence level, recommendations remain tentative.