A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Revista Paulista de Pediatria (Ed. Português. Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822019000400520 |
Resumo: | ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling. |
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A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENINGCongenital hypothyroidismThyrotropin, beta subunitMutationNeonatal screeningABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.Sociedade de Pediatria de São Paulo2019-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822019000400520Revista Paulista de Pediatria v.37 n.4 2019reponame:Revista Paulista de Pediatria (Ed. Português. Online)instname:Sociedade de Pediatria de São Paulo (SPSP)instacron:SPSP10.1590/1984-0462/;2019;37;4;00017info:eu-repo/semantics/openAccessBorges,Maria de FátimaDomené,Horacio MarioScaglia,Paula AlejandraLara,Beatriz Hallal JorgePalhares,Heloísa Marcelina da CunhaSantos,Andréia Vasconcelos AguiarGonçalves,Amanda Lacerda FerreiraOliveira,Marília MatosMarqui,Alessandra Bernadete Trovó deeng2019-10-07T00:00:00Zoai:scielo:S0103-05822019000400520Revistahttps://www.rpped.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.phppediatria@spsp.org.br||rpp@spsp.org.br1984-04620103-0582opendoar:2019-10-07T00:00Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP)false |
dc.title.none.fl_str_mv |
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING |
title |
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING |
spellingShingle |
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING Borges,Maria de Fátima Congenital hypothyroidism Thyrotropin, beta subunit Mutation Neonatal screening |
title_short |
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING |
title_full |
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING |
title_fullStr |
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING |
title_full_unstemmed |
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING |
title_sort |
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING |
author |
Borges,Maria de Fátima |
author_facet |
Borges,Maria de Fátima Domené,Horacio Mario Scaglia,Paula Alejandra Lara,Beatriz Hallal Jorge Palhares,Heloísa Marcelina da Cunha Santos,Andréia Vasconcelos Aguiar Gonçalves,Amanda Lacerda Ferreira Oliveira,Marília Matos Marqui,Alessandra Bernadete Trovó de |
author_role |
author |
author2 |
Domené,Horacio Mario Scaglia,Paula Alejandra Lara,Beatriz Hallal Jorge Palhares,Heloísa Marcelina da Cunha Santos,Andréia Vasconcelos Aguiar Gonçalves,Amanda Lacerda Ferreira Oliveira,Marília Matos Marqui,Alessandra Bernadete Trovó de |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Borges,Maria de Fátima Domené,Horacio Mario Scaglia,Paula Alejandra Lara,Beatriz Hallal Jorge Palhares,Heloísa Marcelina da Cunha Santos,Andréia Vasconcelos Aguiar Gonçalves,Amanda Lacerda Ferreira Oliveira,Marília Matos Marqui,Alessandra Bernadete Trovó de |
dc.subject.por.fl_str_mv |
Congenital hypothyroidism Thyrotropin, beta subunit Mutation Neonatal screening |
topic |
Congenital hypothyroidism Thyrotropin, beta subunit Mutation Neonatal screening |
description |
ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-12-01 |
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=S0103-05822019000400520 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822019000400520 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1984-0462/;2019;37;4;00017 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade de Pediatria de São Paulo |
publisher.none.fl_str_mv |
Sociedade de Pediatria de São Paulo |
dc.source.none.fl_str_mv |
Revista Paulista de Pediatria v.37 n.4 2019 reponame:Revista Paulista de Pediatria (Ed. Português. Online) instname:Sociedade de Pediatria de São Paulo (SPSP) instacron:SPSP |
instname_str |
Sociedade de Pediatria de São Paulo (SPSP) |
instacron_str |
SPSP |
institution |
SPSP |
reponame_str |
Revista Paulista de Pediatria (Ed. Português. Online) |
collection |
Revista Paulista de Pediatria (Ed. Português. Online) |
repository.name.fl_str_mv |
Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP) |
repository.mail.fl_str_mv |
pediatria@spsp.org.br||rpp@spsp.org.br |
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1750318251517149184 |