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

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

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, adr...

Full description

Bibliographic Details
Main Authors: Eda Mengen, Aynur Küçükçongar Yavaş, S. Ahmet Uçaktürk
Format: Article
Language:English
Published: Galenos Yayincilik 2020-06-01
Series:JCRPE
Subjects:
adrenal hypoplasia
46
xy disorder of sex development
mirage syndrome
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/a-rare-etiology-of-46xy-disorder-of-sex-developmen/27784

Similar Items

Similar Items