Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism

Detalhes bibliográficos
Autor(a) principal: Alves, Crésio de Aragão Dantas
Data de Publicação: 2013
Outros Autores: Sampaio, Silvana, Barbieri, Anna Maria, Mantovani, Giovanna
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/16665
Resumo: Texto completo: acesso restrito. p. 557–560
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spelling Alves, Crésio de Aragão DantasSampaio, SilvanaBarbieri, Anna MariaMantovani, GiovannaAlves, Crésio de Aragão DantasSampaio, SilvanaBarbieri, Anna MariaMantovani, Giovanna2014-11-26T16:19:39Z20130334-018Xhttp://repositorio.ufba.br/ri/handle/ri/16665v. 26, n. 5Texto completo: acesso restrito. p. 557–560Pseudohypoparathyroidism type Ia (PHP Ia) is a rare disease characterized by an elevated parathyroid hormone due to the resistance to its action in target tissues. We report a new GNAS mutation causing PHP Ia and an atypical early-onset primary hypothyroidism. A 3-year-old boy was diagnosed with obesity, delayed pyschomotor development, and round face. The laboratory evaluation at the age of 1 year showed primary hypothyroidism, hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase, and parathyroid hormone. These data led to the diagnosis of PHP Ia. Molecular analysis revealed a novel missense mutation in GNAS exon 1 (TCG→CGC, Cys3→Arg) in both the child and his mother. Although previously reported cases described delayed subclinical hypothyroidism as the more common thyroid abnormality, we report a not previously described GNAS mutation associated with an atypical early-onset primary hypothyroidism. These observations broaden the clinical spectrum of PHP Ia and its associated mutations.Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-11-25T11:53:40Z No. of bitstreams: 1 Cresio Alves.pdf: 328137 bytes, checksum: 71519fea0f6e4e19bf09b294caececa9 (MD5)Approved for entry into archive by Flávia Ferreira (flaviaccf@yahoo.com.br) on 2014-11-26T16:19:39Z (GMT) No. of bitstreams: 1 Cresio Alves.pdf: 328137 bytes, checksum: 71519fea0f6e4e19bf09b294caececa9 (MD5)Made available in DSpace on 2014-11-26T16:19:39Z (GMT). No. of bitstreams: 1 Cresio Alves.pdf: 328137 bytes, checksum: 71519fea0f6e4e19bf09b294caececa9 (MD5) Previous issue date: 2013http://dx.doi.org/ 10.1515/jpem-2012-0301reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAHypocalcemiaHypothyroidismPseudo-hypoparathyroidismPseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidismJournal of Pediatric Endocrinology and Metabolisminfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINALCresio Alves.pdfCresio Alves.pdfapplication/pdf328137https://repositorio.ufba.br/bitstream/ri/16665/1/Cresio%20Alves.pdf71519fea0f6e4e19bf09b294caececa9MD51LICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/16665/2/license.txtff6eaa8b858ea317fded99f125f5fcd0MD52TEXTCresio Alves.pdf.txtCresio Alves.pdf.txtExtracted texttext/plain14372https://repositorio.ufba.br/bitstream/ri/16665/3/Cresio%20Alves.pdf.txt97844d84cc3e58af89aec98a5b6efb9cMD53ri/166652022-08-08 13:17:27.214oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-08-08T16:17:27Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
dc.title.alternative.pt_BR.fl_str_mv Journal of Pediatric Endocrinology and Metabolism
title Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
spellingShingle Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
Alves, Crésio de Aragão Dantas
Hypocalcemia
Hypothyroidism
Pseudo-hypoparathyroidism
title_short Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
title_full Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
title_fullStr Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
title_full_unstemmed Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
title_sort Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism
author Alves, Crésio de Aragão Dantas
author_facet Alves, Crésio de Aragão Dantas
Sampaio, Silvana
Barbieri, Anna Maria
Mantovani, Giovanna
author_role author
author2 Sampaio, Silvana
Barbieri, Anna Maria
Mantovani, Giovanna
author2_role author
author
author
dc.contributor.author.fl_str_mv Alves, Crésio de Aragão Dantas
Sampaio, Silvana
Barbieri, Anna Maria
Mantovani, Giovanna
Alves, Crésio de Aragão Dantas
Sampaio, Silvana
Barbieri, Anna Maria
Mantovani, Giovanna
dc.subject.por.fl_str_mv Hypocalcemia
Hypothyroidism
Pseudo-hypoparathyroidism
topic Hypocalcemia
Hypothyroidism
Pseudo-hypoparathyroidism
description Texto completo: acesso restrito. p. 557–560
publishDate 2013
dc.date.issued.fl_str_mv 2013
dc.date.accessioned.fl_str_mv 2014-11-26T16:19:39Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/16665
dc.identifier.issn.none.fl_str_mv 0334-018X
dc.identifier.number.pt_BR.fl_str_mv v. 26, n. 5
identifier_str_mv 0334-018X
v. 26, n. 5
url http://repositorio.ufba.br/ri/handle/ri/16665
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.pt_BR.fl_str_mv http://dx.doi.org/ 10.1515/jpem-2012-0301
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
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instname_str Universidade Federal da Bahia (UFBA)
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collection Repositório Institucional da UFBA
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