Clinical Report: A Unique Male Neonate with MIRAGE Syndrome

Overview

Expand on the implications of the 46,XY karyotype with female external genitalia.

Background

MIRAGE syndrome is a severe congenital disorder caused by mutations in the SAMD9 gene, leading to multiple system dysfunctions. It is crucial for clinicians to recognize this condition early, as it can significantly impact management and outcomes. The presentation of ambiguous genitalia in 46,XY individuals complicates diagnosis and necessitates careful evaluation.

Data Highlights

No specific numerical data or trial data presented in the article.

Key Findings

• The patient had a 46,XY karyotype with predominantly female external genitalia.
• Clinical manifestations included growth restriction, respiratory distress, and recurrent infections.
• Genetic testing confirmed the diagnosis of MIRAGE syndrome due to SAMD9 mutations.
• There are limited documented cases of neonatal MIRAGE syndrome, emphasizing the rarity of this condition.
• Early recognition and genetic testing are essential for accurate diagnosis and management.

Clinical Implications

Clinicians should consider MIRAGE syndrome in newborns with unexplained premature birth, growth restriction, and ambiguous genitalia. Genetic testing is recommended to clarify the diagnosis and guide management strategies.

Conclusion

This case underscores the importance of recognizing MIRAGE syndrome in neonates with atypical genitalia and highlights the need for genetic confirmation to inform clinical decisions.

Related Resources & Content

1. Narumi S, The Journal of Clinical Endocrinology & Metabolism, 2016 -- MIRAGE Syndrome
2. Frontiers in Endocrinology, 2026 -- Rare SRY-negative 46,XX disorder of sex development
3. The Journal of Clinical Endocrinology & Metabolism, 2026 -- Clinical Features and Pubertal Development in Males and Females with Partial Gonadal Dysgenesis 46,XY
4. conexiant — Unusual Neonatal Presentation of 48,XXYY
5. MIRAGE Syndrome - GeneReviews®
6. EAU Guidelines on Paediatric Urology 2025
7. Differences of sex development | Nature Reviews Disease Primers
8. Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature
9. NICE Adrenal Insufficiency: Identification and Management Guideline Summary - Guideline Central
10. Adrenal insufficiency: identification and management—summary of new NICE guidance | The BMJ
11. Primary Adrenal Insufficiency Guideline Resources | Endocrine Society
12. Ambiguous Genitalia in the Newborn - Endotext - NCBI Bookshelf
13. Germline and somatic genetic landscape of pediatric myelodysplastic syndromes | Haematologica
14. Donor-derived somatic genetic rescue with prolonged hematopoietic stability following sibling allogeneic stem cell transplant in SAMD9 syndrome - PubMed