一种罕见的 46,XY 性发育障碍和肾上腺皮质功能减退症病因：由 基因突变引起的 MIRAGE 综合征 1 例。
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the Gene.
机构信息
Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Metabolism, Ankara, Turkey
出版信息
J Clin Res Pediatr Endocrinol. 2020 Jun 3;12(2):206-211. doi: 10.4274/jcrpe.galenos.2019.2019.0053. Epub 2019 Jun 18.
Abstract
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 gene. This report describes the first MIRAGE syndrome patient in Turkey.
摘要
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仍不清楚。MIRAGE 综合征是一种新近认识的先天性疾病，其特征为骨髓增生异常、感染、生长受限、肾上腺发育不全、生殖器表型和肠病。本文报道了一例因 sterile alpha motif domain-containing protein-9 基因杂合错义突变（c.2920G>A;p.E974K）引起的 MIRAGE 综合征病例。该报告描述了土耳其首例 MIRAGE 综合征患者。
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2
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