✨
AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
This report describes the first MIRAGE syndrome patient in Turkey.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Adrenal hypoplasia is a rare congenital disorder.
📊
Key Findings & Data:Here we present a case of MIRAGE syndrome due to a heterozygous missense variant (c.2920G>A; p.E974K) mutation in the sterile alpha motif domain-containing protein-9 (SAMD9) gene.
💡
Conclusion & Impact:This report describes the first MIRAGE syndrome patient in Turkey.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear. MIRAGE syndrome is a recently recognized congenital disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. Here we present a case of MIRAGE syndrome due to a heterozygous missense variant (c.2920G>A; p.E974K) mutation in the sterile alpha motif domain-containing protein-9 (SAMD9) gene. This report describes the first MIRAGE syndrome patient in Turkey.
🔖
Cite This Article
MENGEN, E., UÇAKTÜRK, S. A., YAVAŞ, A. K. (2020). A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 12 - Sayı: 2, 206–211. https://ajindex.com/articles/166582