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
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DOI：
10.4274/jcrpe.galenos.2019.2019.0053
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发表时间：
2020-06-01
影响因子：
1.9
通讯作者：
Ucakturk, S. Ahmet
中科院分区：
文献类型：
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作者：
Mengen, Eda;Yavas, Aynur Kucukcongar;Ucakturk, S. Ahmet
肾上腺发育不全是一种罕见的先天性疾病。尽管进行了生化和分子遗传学评估，但许多肾上腺发育不全患者的病因尚不清楚。癫痫综合征是一种新近发现的先天性疾病，其特征为骨髓发育不良、感染、生长受限、肾上腺发育不全、生殖器表型和肠病。在此我们报告一例由于不育α基序结构域蛋白9（SAMD 9）基因杂合错义变异（c.2920G > A; p.E974K）突变引起的MILIGAN综合征。这份报告描述了土耳其的第一例MILITARY综合征患者。
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.