Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care

Detalhes bibliográficos
Autor(a) principal: Ramos, Helton Estrela
Data de Publicação: 2011
Outros Autores: Morandini, Melina, Carré, Aurore, Tron, Elodie, Floch, Corinne, Mandelbrot, Laurent, Neri, Nathalie, Sarcus, Benoit de, Simon, Albane, Bonnefont, Jean Paul, Amiel, Jeanne, Desguerre, Isabelle, Valayannopoulos, Vassili, Castanet, Mireille, Polak, Michel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/5516
Resumo: texto completo: acesso restrito. p. 309–314.
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spelling Ramos, Helton EstrelaMorandini, MelinaCarré, AuroreTron, ElodieFloch, CorinneMandelbrot, LaurentNeri, NathalieSarcus, Benoit deSimon, AlbaneBonnefont, Jean PaulAmiel, JeanneDesguerre, IsabelleValayannopoulos, VassiliCastanet, MireillePolak, MichelRamos, Helton EstrelaMorandini, MelinaCarré, AuroreTron, ElodieFloch, CorinneMandelbrot, LaurentNeri, NathalieSarcus, Benoit deSimon, AlbaneBonnefont, Jean PaulAmiel, JeanneDesguerre, IsabelleValayannopoulos, VassiliCastanet, MireillePolak, Michel2012-03-06T20:03:56Z2012-03-06T20:03:56Z20111479-683Xhttp://www.repositorio.ufba.br/ri/handle/ri/5516v. 164.texto completo: acesso restrito. p. 309–314.Context: Monocarboxylate transporter 8 (MCT8 or SLC16A2) mutations cause X-linked Allan– Herndon–Dudley syndrome. Heterozygous females are usually asymptomatic, but pregnancy may modify thyroid function and MCT8 is expressed in the placenta, suggesting that maternal and fetal abnormalities might develop even in the absence of MCT8 fetal mutation. Genetic counseling is so far based on X-linked transmission, and prenatal diagnosis is rarely performed. Objective: To describe thyroid function and the prenatal diagnosis in pregnant mothers harboring heterozygous MCT8 mutations and management of the persistent maternal hypothyroxinemia. Patients: Two women heterozygous for MCT8 mutations (c.1690GOA and c.1393-1GOC) were monitored throughout pregnancy. Methods: Prenatal diagnosis included sex determination, direct MCT8 sequencing, and familial linkage analysis. Ultrasonography and hormonal assays for maternal thyroid function evaluation were performed serially during pregnancy. Neonatal thyroid hormonal status was assessed. Results: None of the three fetuses (two males and one female) carried MCT8 mutations. One of the two heterozygous mothers revealed gestational hypothyroxinemia, prompting early levothyroxine (L-T4)therapy until delivery. The second heterozygous mother showed normal thyroid function but was preventively traited by L-T4 and all of the three neonates had normal thyroid hormone levels and thyroid gland at birth, suggesting advantages of prenatal care and/or compensatory mechanisms. Conclusion: HeterozygousMCT8women should bemonitored for requirement of L-T4 therapy to prevent fetal and neonatal hypothyroidism and to avoid risk of potential cognitive delay due to gestational hypothyroxinemia.Moreover,when the disease-causingmutation is known and/or the first child is affected,prenatal diagnosis for male fetuses should be assessed early for MCT8 mutations by direct sequencing.Submitted by Ana Valéria de Jesus Moura (anavaleria_131@hotmail.com) on 2012-03-06T20:03:55Z No. of bitstreams: 1 Pregnancy in women heterozygous for MCT8 mutations_ risk of maternal hypothyroxinemia and fetal care.pdf: 161303 bytes, checksum: 87f342592dd3ae2fd837cfc7e1446041 (MD5)Made available in DSpace on 2012-03-06T20:03:56Z (GMT). No. of bitstreams: 1 Pregnancy in women heterozygous for MCT8 mutations_ risk of maternal hypothyroxinemia and fetal care.pdf: 161303 bytes, checksum: 87f342592dd3ae2fd837cfc7e1446041 (MD5) Previous issue date: 2011DOI: 10.1530/EJE-10-0679reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAPregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal careEuropean Journal of Endocrinologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleenginfo:eu-repo/semantics/openAccessORIGINALPregnancy in women heterozygous for MCT8 mutations_ risk of maternal hypothyroxinemia and fetal care.pdfPregnancy in women heterozygous for MCT8 mutations_ risk of maternal hypothyroxinemia and fetal care.pdfapplication/pdf161303https://repositorio.ufba.br/bitstream/ri/5516/1/Pregnancy%20in%20women%20heterozygous%20for%20MCT8%20mutations_%20risk%20of%20maternal%20hypothyroxinemia%20and%20fetal%20care.pdf87f342592dd3ae2fd837cfc7e1446041MD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/5516/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXTPregnancy in women heterozygous for MCT8 mutations_ risk of maternal hypothyroxinemia and fetal care.pdf.txtPregnancy in women heterozygous for MCT8 mutations_ risk of maternal hypothyroxinemia and fetal care.pdf.txtExtracted texttext/plain30957https://repositorio.ufba.br/bitstream/ri/5516/3/Pregnancy%20in%20women%20heterozygous%20for%20MCT8%20mutations_%20risk%20of%20maternal%20hypothyroxinemia%20and%20fetal%20care.pdf.txt9c8294d8ce774dcdc89e2a425d63920bMD53ri/55162022-07-05 14:03:12.455oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:12Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
dc.title.alternative.pt_BR.fl_str_mv European Journal of Endocrinology
title Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
spellingShingle Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
Ramos, Helton Estrela
title_short Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
title_full Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
title_fullStr Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
title_full_unstemmed Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
title_sort Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
author Ramos, Helton Estrela
author_facet Ramos, Helton Estrela
Morandini, Melina
Carré, Aurore
Tron, Elodie
Floch, Corinne
Mandelbrot, Laurent
Neri, Nathalie
Sarcus, Benoit de
Simon, Albane
Bonnefont, Jean Paul
Amiel, Jeanne
Desguerre, Isabelle
Valayannopoulos, Vassili
Castanet, Mireille
Polak, Michel
author_role author
author2 Morandini, Melina
Carré, Aurore
Tron, Elodie
Floch, Corinne
Mandelbrot, Laurent
Neri, Nathalie
Sarcus, Benoit de
Simon, Albane
Bonnefont, Jean Paul
Amiel, Jeanne
Desguerre, Isabelle
Valayannopoulos, Vassili
Castanet, Mireille
Polak, Michel
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Ramos, Helton Estrela
Morandini, Melina
Carré, Aurore
Tron, Elodie
Floch, Corinne
Mandelbrot, Laurent
Neri, Nathalie
Sarcus, Benoit de
Simon, Albane
Bonnefont, Jean Paul
Amiel, Jeanne
Desguerre, Isabelle
Valayannopoulos, Vassili
Castanet, Mireille
Polak, Michel
Ramos, Helton Estrela
Morandini, Melina
Carré, Aurore
Tron, Elodie
Floch, Corinne
Mandelbrot, Laurent
Neri, Nathalie
Sarcus, Benoit de
Simon, Albane
Bonnefont, Jean Paul
Amiel, Jeanne
Desguerre, Isabelle
Valayannopoulos, Vassili
Castanet, Mireille
Polak, Michel
description texto completo: acesso restrito. p. 309–314.
publishDate 2011
dc.date.issued.fl_str_mv 2011
dc.date.accessioned.fl_str_mv 2012-03-06T20:03:56Z
dc.date.available.fl_str_mv 2012-03-06T20:03:56Z
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://www.repositorio.ufba.br/ri/handle/ri/5516
dc.identifier.issn.none.fl_str_mv 1479-683X
dc.identifier.number.pt_BR.fl_str_mv v. 164.
identifier_str_mv 1479-683X
v. 164.
url http://www.repositorio.ufba.br/ri/handle/ri/5516
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 DOI: 10.1530/EJE-10-0679
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
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