Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

Autores
Braslavsky, Debora Giselle; Méndez, María Virginia; Pérez Prieto, Laura María; Keselman, Ana Claudia; Enacan, Rosa; Gruñeiro Papendieck, Laura; Jullien, Nicolas; Savenau, Alexandru; Reynaud, Rachel; Brue, Thierry; Bergadá, Ignacio; Chiesa, Ana Elena
Año de publicación
2017
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days. Those with T4 ≤4.5 μg/dL (-2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.
Fil: Braslavsky, Debora Giselle. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina. Fundación de Endocrinología Infantil; Argentina
Fil: Méndez, María Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; Argentina
Fil: Pérez Prieto, Laura María. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; Argentina
Fil: Keselman, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina
Fil: Enacan, Rosa. Fundación de Endocrinología Infantil; Argentina
Fil: Gruñeiro Papendieck, Laura. Fundación de Endocrinología Infantil; Argentina
Fil: Jullien, Nicolas. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia
Fil: Savenau, Alexandru. Aix-Marseille Université; Francia. Hôpital de la Conception; Francia. Centre National de la Recherche Scientifique; Francia
Fil: Reynaud, Rachel. Aix-Marseille Université; Francia. Hôpitaux de Marseille; Francia. Centre National de la Recherche Scientifique; Francia
Fil: Brue, Thierry. Aix-Marseille Université; Francia. Hôpital de la Conception; Francia. Centre National de la Recherche Scientifique; Francia
Fil: Bergadá, Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; Argentina
Fil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina. Fundación de Endocrinología Infantil; Argentina
Materia
Central Hypothyroidism
Congenital Hypopituitarism
Congenital Hypothyroidism
Dried Blood Specimen
Neonatal Screening Program
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/54318
Acceder
id CONICETDig_9a3e5d899cc117c701702c2a4a1ad527
oai_identifier_str oai:ri.conicet.gov.ar:11336/54318
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant DetectionBraslavsky, Debora GiselleMéndez, María VirginiaPérez Prieto, Laura MaríaKeselman, Ana ClaudiaEnacan, RosaGruñeiro Papendieck, LauraJullien, NicolasSavenau, AlexandruReynaud, RachelBrue, ThierryBergadá, IgnacioChiesa, Ana ElenaCentral HypothyroidismCongenital HypopituitarismCongenital HypothyroidismDried Blood SpecimenNeonatal Screening Programhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days. Those with T4 ≤4.5 μg/dL (-2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.Fil: Braslavsky, Debora Giselle. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina. Fundación de Endocrinología Infantil; ArgentinaFil: Méndez, María Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; ArgentinaFil: Pérez Prieto, Laura María. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; ArgentinaFil: Keselman, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; ArgentinaFil: Enacan, Rosa. Fundación de Endocrinología Infantil; ArgentinaFil: Gruñeiro Papendieck, Laura. Fundación de Endocrinología Infantil; ArgentinaFil: Jullien, Nicolas. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; FranciaFil: Savenau, Alexandru. Aix-Marseille Université; Francia. Hôpital de la Conception; Francia. Centre National de la Recherche Scientifique; FranciaFil: Reynaud, Rachel. Aix-Marseille Université; Francia. Hôpitaux de Marseille; Francia. Centre National de la Recherche Scientifique; FranciaFil: Brue, Thierry. Aix-Marseille Université; Francia. Hôpital de la Conception; Francia. Centre National de la Recherche Scientifique; FranciaFil: Bergadá, Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina. Fundación de Endocrinología Infantil; ArgentinaKarger2017-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/54318Braslavsky, Debora Giselle; Méndez, María Virginia; Pérez Prieto, Laura María; Keselman, Ana Claudia; Enacan, Rosa; et al.; Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection; Karger; Hormone Research in Paediatrics; 88; 3-4; 10-2017; 274-2801663-28181663-2826CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1159/000480293info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/FullText/480293info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T15:15:23Zoai:ri.conicet.gov.ar:11336/54318instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-15 15:15:23.434CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
title Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
spellingShingle Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
Braslavsky, Debora Giselle
Central Hypothyroidism
Congenital Hypopituitarism
Congenital Hypothyroidism
Dried Blood Specimen
Neonatal Screening Program
title_short Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
title_full Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
title_fullStr Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
title_full_unstemmed Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
title_sort Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
dc.creator.none.fl_str_mv Braslavsky, Debora Giselle
Méndez, María Virginia
Pérez Prieto, Laura María
Keselman, Ana Claudia
Enacan, Rosa
Gruñeiro Papendieck, Laura
Jullien, Nicolas
Savenau, Alexandru
Reynaud, Rachel
Brue, Thierry
Bergadá, Ignacio
Chiesa, Ana Elena
author Braslavsky, Debora Giselle
author_facet Braslavsky, Debora Giselle
Méndez, María Virginia
Pérez Prieto, Laura María
Keselman, Ana Claudia
Enacan, Rosa
Gruñeiro Papendieck, Laura
Jullien, Nicolas
Savenau, Alexandru
Reynaud, Rachel
Brue, Thierry
Bergadá, Ignacio
Chiesa, Ana Elena
author_role author
author2 Méndez, María Virginia
Pérez Prieto, Laura María
Keselman, Ana Claudia
Enacan, Rosa
Gruñeiro Papendieck, Laura
Jullien, Nicolas
Savenau, Alexandru
Reynaud, Rachel
Brue, Thierry
Bergadá, Ignacio
Chiesa, Ana Elena
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Central Hypothyroidism
Congenital Hypopituitarism
Congenital Hypothyroidism
Dried Blood Specimen
Neonatal Screening Program
topic Central Hypothyroidism
Congenital Hypopituitarism
Congenital Hypothyroidism
Dried Blood Specimen
Neonatal Screening Program
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days. Those with T4 ≤4.5 μg/dL (-2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.
Fil: Braslavsky, Debora Giselle. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina. Fundación de Endocrinología Infantil; Argentina
Fil: Méndez, María Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; Argentina
Fil: Pérez Prieto, Laura María. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; Argentina
Fil: Keselman, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina
Fil: Enacan, Rosa. Fundación de Endocrinología Infantil; Argentina
Fil: Gruñeiro Papendieck, Laura. Fundación de Endocrinología Infantil; Argentina
Fil: Jullien, Nicolas. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia
Fil: Savenau, Alexandru. Aix-Marseille Université; Francia. Hôpital de la Conception; Francia. Centre National de la Recherche Scientifique; Francia
Fil: Reynaud, Rachel. Aix-Marseille Université; Francia. Hôpitaux de Marseille; Francia. Centre National de la Recherche Scientifique; Francia
Fil: Brue, Thierry. Aix-Marseille Université; Francia. Hôpital de la Conception; Francia. Centre National de la Recherche Scientifique; Francia
Fil: Bergadá, Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; Argentina
Fil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina. Fundación de Endocrinología Infantil; Argentina
description Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days. Those with T4 ≤4.5 μg/dL (-2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.
publishDate 2017
dc.date.none.fl_str_mv 2017-10
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/54318
Braslavsky, Debora Giselle; Méndez, María Virginia; Pérez Prieto, Laura María; Keselman, Ana Claudia; Enacan, Rosa; et al.; Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection; Karger; Hormone Research in Paediatrics; 88; 3-4; 10-2017; 274-280
1663-2818
1663-2826
CONICET Digital
CONICET
url http://hdl.handle.net/11336/54318
identifier_str_mv Braslavsky, Debora Giselle; Méndez, María Virginia; Pérez Prieto, Laura María; Keselman, Ana Claudia; Enacan, Rosa; et al.; Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection; Karger; Hormone Research in Paediatrics; 88; 3-4; 10-2017; 274-280
1663-2818
1663-2826
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1159/000480293
info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/FullText/480293
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Karger
publisher.none.fl_str_mv Karger
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.22299

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