J Clin Res Pediatr Endocrinol. 2020; 12(2): 206-211 | DOI: 10.4274/jcrpe.galenos.2019.2019.0053
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
Eda Mengen1, Aynur Küçükçongar Yavaş2, S. Ahmet Uçaktürk11Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
2Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Metabolism, Ankara, Turkey
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.
Keywords: Adrenal hypoplasia, 46,XY disorder of sex development, MIRAGE syndrome
Eda Mengen, Aynur Küçükçongar Yavaş, S. Ahmet Uçaktürk. 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. J Clin Res Pediatr Endocrinol. 2020; 12(2): 206-211
Manuscript Language: English