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

JCRPE

S. Ahmet Uçaktürk¹  Eda Mengen¹  Aynur Küçükçongar Yavaş² 

[1] Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey;Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Metabolism, Ankara, Turkey;

关键词: adrenal hypoplasia;    46;    xy disorder of sex development;    mirage syndrome;   

DOI  :  10.4274/jcrpe.galenos.2019.2019.0053

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown