Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene

Detalhes bibliográficos
Autor(a) principal: Coeli,Fernanda Borchers
Data de Publicação: 2008
Outros Autores: Ferraz,Lúcio Fábio Caldas, Lemos-Marini,Sofia H. V. de, Rigatto,Sumara Zuanazi Pinto, Belangero,Vera Maria Santoro, de-Mello,Maricilda Palandi
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800012
Resumo: The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME.
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spelling Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 geneApparent mineralocorticoid excessHSD11B2 geneHypertensionDeficiency of 11β-hydroxysteroid dehydrogenase type 2MutationsThe apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME.Sociedade Brasileira de Endocrinologia e Metabologia2008-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800012Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302008000800012info:eu-repo/semantics/openAccessCoeli,Fernanda BorchersFerraz,Lúcio Fábio CaldasLemos-Marini,Sofia H. V. deRigatto,Sumara Zuanazi PintoBelangero,Vera Maria Santorode-Mello,Maricilda Palandieng2009-01-16T00:00:00Zoai:scielo:S0004-27302008000800012Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2009-01-16T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false
dc.title.none.fl_str_mv Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
title Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
spellingShingle Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
Coeli,Fernanda Borchers
Apparent mineralocorticoid excess
HSD11B2 gene
Hypertension
Deficiency of 11β-hydroxysteroid dehydrogenase type 2
Mutations
title_short Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
title_full Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
title_fullStr Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
title_full_unstemmed Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
title_sort Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
author Coeli,Fernanda Borchers
author_facet Coeli,Fernanda Borchers
Ferraz,Lúcio Fábio Caldas
Lemos-Marini,Sofia H. V. de
Rigatto,Sumara Zuanazi Pinto
Belangero,Vera Maria Santoro
de-Mello,Maricilda Palandi
author_role author
author2 Ferraz,Lúcio Fábio Caldas
Lemos-Marini,Sofia H. V. de
Rigatto,Sumara Zuanazi Pinto
Belangero,Vera Maria Santoro
de-Mello,Maricilda Palandi
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Coeli,Fernanda Borchers
Ferraz,Lúcio Fábio Caldas
Lemos-Marini,Sofia H. V. de
Rigatto,Sumara Zuanazi Pinto
Belangero,Vera Maria Santoro
de-Mello,Maricilda Palandi
dc.subject.por.fl_str_mv Apparent mineralocorticoid excess
HSD11B2 gene
Hypertension
Deficiency of 11β-hydroxysteroid dehydrogenase type 2
Mutations
topic Apparent mineralocorticoid excess
HSD11B2 gene
Hypertension
Deficiency of 11β-hydroxysteroid dehydrogenase type 2
Mutations
description The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by HSD11B2 gene, metabolizes active cortisol in cortisone. Mutations on HSD11B2 gene affect the enzyme activity by leading to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor. Therefore, cortisol will bind mineralocorticoid receptor. The human HSD11B2 gene maps to chromosome 16q22 and consists of five exons encoding a protein of 405 amino acids. We present here clinical and molecular studies on a Brazilian boy who was born pre-term after an oligodramnious pregnancy. He was diagnosed as having AME at the age of 26 months. His parents are second cousins. Molecular characterization of the HSD11B2 gene revealed the homozygous mutation p.R186C. The patient described here is the second case of HDS11B2 gene mutation reported in Brazilian patients with AME.
publishDate 2008
dc.date.none.fl_str_mv 2008-11-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800012
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800012
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-27302008000800012
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008
reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
instname_str Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron_str SBEM
institution SBEM
reponame_str Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
collection Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
repository.name.fl_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
repository.mail.fl_str_mv ||abem-editoria@endocrino.org.br
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