Acid-labile subunit (ALS) deficiency

Autores
Domene, Horacio Mario; Hwa, Vivian; Jasper, Hector Guillermo; Rosenfeld, Ron G.
Año de publicación
2011
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The acid-labile subunit (ALS) protein is crucial for maintaining the integrity of the circulating IGF/IGFBP system. In humans, complete ALS deficiency is characterized by severely reduced serum IGF-I and IGFBP-3 concentrations that is incongruent with the associated mild growth retardation (height SDS -2 to -3 SDS before and during puberty). Twenty-one patients have been described with ALS deficiency, representing 16 unique homozygous or compound heterozygous inactivating mutations of the IGFALS gene. Pubertal delay in boys and insulin insensitivity are common findings. In the assessment of a child with short stature ALS deficiency should be consider in those patients presenting: 1) a normal response to GH stimulation test, 2) low IGF-I levels associated with more profoundly reduced IGFBP-3 levels, 3) a mild growth retardation, apparently out of proportion to the degree of IGF-I and IGFBP-3 deficits, 4) lack of response to an IGF generation test and 5) insulin insensitivity.
Fil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Hwa, Vivian. Oregon Health & Science University; Estados Unidos
Fil: Jasper, Hector Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Rosenfeld, Ron G.. Oregon Health & Science University; Estados Unidos
Materia
ACID-LABILE SUBUNIT
GROWTH HORMONE INSENSITIVITY
IGFALS GENE MUTATIONS
INSULIN-LIKE GROWTH FACTOR-I
LNSULIN RESISTANCE
LNSULIN-LIKE GROWTH FACTOR BINDING PROTEIN
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:11336/97911
Acceder
id CONICETDig_3e943a73df7b6167f7ac826cdbc7b113
oai_identifier_str oai:ri.conicet.gov.ar:11336/97911
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Acid-labile subunit (ALS) deficiencyDomene, Horacio MarioHwa, VivianJasper, Hector GuillermoRosenfeld, Ron G.ACID-LABILE SUBUNITGROWTH HORMONE INSENSITIVITYIGFALS GENE MUTATIONSINSULIN-LIKE GROWTH FACTOR-ILNSULIN RESISTANCELNSULIN-LIKE GROWTH FACTOR BINDING PROTEINhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3The acid-labile subunit (ALS) protein is crucial for maintaining the integrity of the circulating IGF/IGFBP system. In humans, complete ALS deficiency is characterized by severely reduced serum IGF-I and IGFBP-3 concentrations that is incongruent with the associated mild growth retardation (height SDS -2 to -3 SDS before and during puberty). Twenty-one patients have been described with ALS deficiency, representing 16 unique homozygous or compound heterozygous inactivating mutations of the IGFALS gene. Pubertal delay in boys and insulin insensitivity are common findings. In the assessment of a child with short stature ALS deficiency should be consider in those patients presenting: 1) a normal response to GH stimulation test, 2) low IGF-I levels associated with more profoundly reduced IGFBP-3 levels, 3) a mild growth retardation, apparently out of proportion to the degree of IGF-I and IGFBP-3 deficits, 4) lack of response to an IGF generation test and 5) insulin insensitivity.Fil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Hwa, Vivian. Oregon Health & Science University; Estados UnidosFil: Jasper, Hector Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Rosenfeld, Ron G.. Oregon Health & Science University; Estados UnidosElsevier2011-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/97911Domene, Horacio Mario; Hwa, Vivian; Jasper, Hector Guillermo; Rosenfeld, Ron G.; Acid-labile subunit (ALS) deficiency; Elsevier; Best Practice & Research Clinical Endocrinology & Metabolism; 25; 1; 2-2011; 101-1131521-690XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1521690X10000953info:eu-repo/semantics/altIdentifier/doi/10.1016/j.beem.2010.08.010info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T14:54:08Zoai:ri.conicet.gov.ar:11336/97911instacron: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 14:54:09.192CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Acid-labile subunit (ALS) deficiency
title Acid-labile subunit (ALS) deficiency
spellingShingle Acid-labile subunit (ALS) deficiency
Domene, Horacio Mario
ACID-LABILE SUBUNIT
GROWTH HORMONE INSENSITIVITY
IGFALS GENE MUTATIONS
INSULIN-LIKE GROWTH FACTOR-I
LNSULIN RESISTANCE
LNSULIN-LIKE GROWTH FACTOR BINDING PROTEIN
title_short Acid-labile subunit (ALS) deficiency
title_full Acid-labile subunit (ALS) deficiency
title_fullStr Acid-labile subunit (ALS) deficiency
title_full_unstemmed Acid-labile subunit (ALS) deficiency
title_sort Acid-labile subunit (ALS) deficiency
dc.creator.none.fl_str_mv Domene, Horacio Mario
Hwa, Vivian
Jasper, Hector Guillermo
Rosenfeld, Ron G.
author Domene, Horacio Mario
author_facet Domene, Horacio Mario
Hwa, Vivian
Jasper, Hector Guillermo
Rosenfeld, Ron G.
author_role author
author2 Hwa, Vivian
Jasper, Hector Guillermo
Rosenfeld, Ron G.
author2_role author
author
author
dc.subject.none.fl_str_mv ACID-LABILE SUBUNIT
GROWTH HORMONE INSENSITIVITY
IGFALS GENE MUTATIONS
INSULIN-LIKE GROWTH FACTOR-I
LNSULIN RESISTANCE
LNSULIN-LIKE GROWTH FACTOR BINDING PROTEIN
topic ACID-LABILE SUBUNIT
GROWTH HORMONE INSENSITIVITY
IGFALS GENE MUTATIONS
INSULIN-LIKE GROWTH FACTOR-I
LNSULIN RESISTANCE
LNSULIN-LIKE GROWTH FACTOR BINDING PROTEIN
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv The acid-labile subunit (ALS) protein is crucial for maintaining the integrity of the circulating IGF/IGFBP system. In humans, complete ALS deficiency is characterized by severely reduced serum IGF-I and IGFBP-3 concentrations that is incongruent with the associated mild growth retardation (height SDS -2 to -3 SDS before and during puberty). Twenty-one patients have been described with ALS deficiency, representing 16 unique homozygous or compound heterozygous inactivating mutations of the IGFALS gene. Pubertal delay in boys and insulin insensitivity are common findings. In the assessment of a child with short stature ALS deficiency should be consider in those patients presenting: 1) a normal response to GH stimulation test, 2) low IGF-I levels associated with more profoundly reduced IGFBP-3 levels, 3) a mild growth retardation, apparently out of proportion to the degree of IGF-I and IGFBP-3 deficits, 4) lack of response to an IGF generation test and 5) insulin insensitivity.
Fil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Hwa, Vivian. Oregon Health & Science University; Estados Unidos
Fil: Jasper, Hector Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Rosenfeld, Ron G.. Oregon Health & Science University; Estados Unidos
description The acid-labile subunit (ALS) protein is crucial for maintaining the integrity of the circulating IGF/IGFBP system. In humans, complete ALS deficiency is characterized by severely reduced serum IGF-I and IGFBP-3 concentrations that is incongruent with the associated mild growth retardation (height SDS -2 to -3 SDS before and during puberty). Twenty-one patients have been described with ALS deficiency, representing 16 unique homozygous or compound heterozygous inactivating mutations of the IGFALS gene. Pubertal delay in boys and insulin insensitivity are common findings. In the assessment of a child with short stature ALS deficiency should be consider in those patients presenting: 1) a normal response to GH stimulation test, 2) low IGF-I levels associated with more profoundly reduced IGFBP-3 levels, 3) a mild growth retardation, apparently out of proportion to the degree of IGF-I and IGFBP-3 deficits, 4) lack of response to an IGF generation test and 5) insulin insensitivity.
publishDate 2011
dc.date.none.fl_str_mv 2011-02
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/11336/97911
Domene, Horacio Mario; Hwa, Vivian; Jasper, Hector Guillermo; Rosenfeld, Ron G.; Acid-labile subunit (ALS) deficiency; Elsevier; Best Practice & Research Clinical Endocrinology & Metabolism; 25; 1; 2-2011; 101-113
1521-690X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/97911
identifier_str_mv Domene, Horacio Mario; Hwa, Vivian; Jasper, Hector Guillermo; Rosenfeld, Ron G.; Acid-labile subunit (ALS) deficiency; Elsevier; Best Practice & Research Clinical Endocrinology & Metabolism; 25; 1; 2-2011; 101-113
1521-690X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1521690X10000953
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.beem.2010.08.010
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
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
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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