Case Report

A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene

10.4274/jcrpe.galenos.2019.2019.0053

  • Eda Mengen
  • Aynur Kucukcongar Yavas

Received Date: 16.04.2019 Accepted Date: 10.06.2019 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 31208161

Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetics 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. We present here a case of MIRAGE syndrome due to a heterozygous missense variant c.2920G>A; p.E974K mutation in sterile alpha motif domain-containing protein-9 (SAMD9) gene. This report describes the first MIRAGE syndrome patient in Turkey.

Keywords: Adrenal hypoplasia, 46, XY Disorder of Sex Development, MIRAGE Syndrome