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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Autores principales: Mengen, Eda, Küçükçongar Yavaş, Aynur, Uçaktürk, S. Ahmet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291401/
https://www.ncbi.nlm.nih.gov/pubmed/31208161
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0053
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author Mengen, Eda
Küçükçongar Yavaş, Aynur
Uçaktürk, S. Ahmet
author_facet Mengen, Eda
Küçükçongar Yavaş, Aynur
Uçaktürk, S. Ahmet
author_sort Mengen, Eda
collection PubMed
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.
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spelling pubmed-72914012020-06-23 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 Mengen, Eda Küçükçongar Yavaş, Aynur Uçaktürk, S. Ahmet J Clin Res Pediatr Endocrinol Case Report 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. Galenos Publishing 2020-06 2020-06-03 /pmc/articles/PMC7291401/ /pubmed/31208161 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0053 Text en ©Copyright 2020 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mengen, Eda
Küçükçongar Yavaş, Aynur
Uçaktürk, S. Ahmet
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 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_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_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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291401/
https://www.ncbi.nlm.nih.gov/pubmed/31208161
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0053
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