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...

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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
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spelling doaj-c369528b115848da87c28b64a9ab10492020-11-25T02:25:06ZengGalenos YayincilikJCRPE1308-57271308-57352020-06-0112220621110.4274/jcrpe.galenos.2019.2019.005313049054A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 GeneEda Mengen0Aynur Küçükçongar Yavaş1S. Ahmet Uçaktürk2 Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Metabolism, Ankara, Turkey Ankara City Hospital, Children’s Hospital, Clinic of Pediatric Endocrinology, 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. http://www.jcrpe.org/archives/archive-detail/article-preview/a-rare-etiology-of-46xy-disorder-of-sex-developmen/27784 adrenal hypoplasia46xy disorder of sex developmentmirage syndrome
collection DOAJ
language English
format Article
sources DOAJ
author Eda Mengen
Aynur Küçükçongar Yavaş
S. Ahmet Uçaktürk
spellingShingle 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
JCRPE
adrenal hypoplasia
46
xy disorder of sex development
mirage syndrome
author_facet Eda Mengen
Aynur Küçükçongar Yavaş
S. Ahmet Uçaktürk
author_sort Eda Mengen
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort rare etiology of 46,xy disorder of sex development and adrenal insufficiency: a case of mirage syndrome caused by mutations in the samd9 gene
publisher Galenos Yayincilik
series JCRPE
issn 1308-5727
1308-5735
publishDate 2020-06-01
description 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.
topic adrenal hypoplasia
46
xy disorder of sex development
mirage syndrome
url http://www.jcrpe.org/archives/archive-detail/article-preview/a-rare-etiology-of-46xy-disorder-of-sex-developmen/27784
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