Objective:

To present a rare case of neonatal MIRAGE syndrome with a 46,XY karyotype and female external genitalia, emphasizing its significance in the context of existing literature on MIRAGE syndrome in infants under 1 year of age.

Approach:

Key Findings:

• The infant had a 46, XY karyotype with predominantly female external genitalia.
• Clinical manifestations included preterm birth, respiratory distress, growth restriction, recurrent infections, and thrombocytopenia.
• The study highlights the need for genetic testing in cases of ambiguous genitalia with a 46, XY karyotype, supported by findings from the literature review.

Interpretation:

Clinicians should consider MIRAGE syndrome in newborns with unexplained premature birth, growth restriction, and ambiguous genitalia, and may perform genetic testing for diagnosis, which can significantly influence management strategies.

Limitations:

• Limited number of documented cases of neonatal MIRAGE syndrome, which may affect the generalizability of the findings.
• The study is based on a single case report, limiting the breadth of conclusions that can be drawn.

Conclusion:

The findings emphasize the importance of genetic testing in diagnosing MIRAGE syndrome in neonates with atypical presentations, which can lead to improved clinical outcomes.

Attribution Notice

This content is an AI-generated, fully rewritten summary based on a published scholarly article. It does not reproduce the original text and is not a substitute for the original publication. Readers are encouraged to consult the source for full context, data, and methodology.