Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency

Autores
Muñoz Calvo, María T.; Barrios, Vicente; Pozo, Jesús; Chowen, Julie A.; Martos-Moreno, Gabriel Á.; Hawkins, Federico; Dauber, Andrew; Domene, Horacio Mario; Yakar, Shoshana; Rosenfeld, Ron G.; Pérez-Jurado, Luis A.; Oxvig, Claus; Frystyk, Jan; Argente, Jesús
Año de publicación
2016
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Context: Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that specifically cleaves IGFBP-3 and IGFBP-5. Mutations in the PAPP-A2 gene have recently been shown to cause postnatal growth failure in humans, with specific skeletal features, due to the resulting decrease in IGF-1 bioavailability. However, a pharmacological treatment of this entity is yet to be established. Case Description: A 10.5-year-old girl and a 6-year-old boy, siblings from a Spanish family, with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25.) and undetectable PAPP-A2 activity, were treated with progressive doses (40, 80, 100, and 120 mu;g/kg) of recombinant human IGF-1 (rhIGF-1) twice daily for 1 year. There was a clear increase in growth velocity and height in both siblings. Bioactive IGF-1 was increased, and spontaneous GH secretion was diminished after acute administration of rhIGF-1, whereas serum total IGF-1 and IGFBP-3 levels remained elevated. No episodes of hypoglycemia or any other secondary effects were observed during treatment. Conclusion: Short-term treatment with rhIGF-1 improves growth in patients with PAPP-A2 deficiency. (J Clin Endocrinol Metab 101: 3879-3883, 2016).
Fil: Muñoz Calvo, María T.. Universidad Autónoma de Madrid; España
Fil: Barrios, Vicente. Universidad Autónoma de Madrid; España
Fil: Pozo, Jesús. Universidad Autónoma de Madrid; España
Fil: Chowen, Julie A.. Universidad Autónoma de Madrid; España
Fil: Martos-Moreno, Gabriel Á.. Universidad Autónoma de Madrid; España
Fil: Hawkins, Federico. Universidad Complutense de Madrid; España
Fil: Dauber, Andrew. Cincinnati Children's Hospital Medical Center; Estados Unidos
Fil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
Fil: Yakar, Shoshana. New York University College of Dentistry; Estados Unidos
Fil: Rosenfeld, Ron G.. Oregon Health and Science University; Estados Unidos
Fil: Pérez-Jurado, Luis A.. Universitat Pompeu Fabra; España
Fil: Oxvig, Claus. University Aarhus; Dinamarca
Fil: Frystyk, Jan. University Aarhus; Dinamarca
Fil: Argente, Jesús. Universidad Autónoma de Madrid; España
Materia
PAPP-A2 deficiency
GH treatment
short stature
children
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:11336/54951
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiencyMuñoz Calvo, María T.Barrios, VicentePozo, JesúsChowen, Julie A.Martos-Moreno, Gabriel Á.Hawkins, FedericoDauber, AndrewDomene, Horacio MarioYakar, ShoshanaRosenfeld, Ron G.Pérez-Jurado, Luis A.Oxvig, ClausFrystyk, JanArgente, JesúsPAPP-A2 deficiencyGH treatmentshort staturechildrenhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Context: Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that specifically cleaves IGFBP-3 and IGFBP-5. Mutations in the PAPP-A2 gene have recently been shown to cause postnatal growth failure in humans, with specific skeletal features, due to the resulting decrease in IGF-1 bioavailability. However, a pharmacological treatment of this entity is yet to be established. Case Description: A 10.5-year-old girl and a 6-year-old boy, siblings from a Spanish family, with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25.) and undetectable PAPP-A2 activity, were treated with progressive doses (40, 80, 100, and 120 mu;g/kg) of recombinant human IGF-1 (rhIGF-1) twice daily for 1 year. There was a clear increase in growth velocity and height in both siblings. Bioactive IGF-1 was increased, and spontaneous GH secretion was diminished after acute administration of rhIGF-1, whereas serum total IGF-1 and IGFBP-3 levels remained elevated. No episodes of hypoglycemia or any other secondary effects were observed during treatment. Conclusion: Short-term treatment with rhIGF-1 improves growth in patients with PAPP-A2 deficiency. (J Clin Endocrinol Metab 101: 3879-3883, 2016).Fil: Muñoz Calvo, María T.. Universidad Autónoma de Madrid; EspañaFil: Barrios, Vicente. Universidad Autónoma de Madrid; EspañaFil: Pozo, Jesús. Universidad Autónoma de Madrid; EspañaFil: Chowen, Julie A.. Universidad Autónoma de Madrid; EspañaFil: Martos-Moreno, Gabriel Á.. Universidad Autónoma de Madrid; EspañaFil: Hawkins, Federico. Universidad Complutense de Madrid; EspañaFil: Dauber, Andrew. Cincinnati Children's Hospital Medical Center; Estados UnidosFil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Yakar, Shoshana. New York University College of Dentistry; Estados UnidosFil: Rosenfeld, Ron G.. Oregon Health and Science University; Estados UnidosFil: Pérez-Jurado, Luis A.. Universitat Pompeu Fabra; EspañaFil: Oxvig, Claus. University Aarhus; DinamarcaFil: Frystyk, Jan. University Aarhus; DinamarcaFil: Argente, Jesús. Universidad Autónoma de Madrid; EspañaEndocrine Society2016-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/54951Muñoz Calvo, María T.; Barrios, Vicente; Pozo, Jesús; Chowen, Julie A.; Martos-Moreno, Gabriel Á.; et al.; Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 101; 11; 11-2016; 3879-38830021-972XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1210/jc.2016-2751info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/101/11/3879/2764910info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-11-12T09:51:51Zoai:ri.conicet.gov.ar:11336/54951instacron: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:34982025-11-12 09:51:52.267CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency
title Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency
spellingShingle Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency
Muñoz Calvo, María T.
PAPP-A2 deficiency
GH treatment
short stature
children
title_short Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency
title_full Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency
title_fullStr Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency
title_full_unstemmed Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency
title_sort Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency
dc.creator.none.fl_str_mv Muñoz Calvo, María T.
Barrios, Vicente
Pozo, Jesús
Chowen, Julie A.
Martos-Moreno, Gabriel Á.
Hawkins, Federico
Dauber, Andrew
Domene, Horacio Mario
Yakar, Shoshana
Rosenfeld, Ron G.
Pérez-Jurado, Luis A.
Oxvig, Claus
Frystyk, Jan
Argente, Jesús
author Muñoz Calvo, María T.
author_facet Muñoz Calvo, María T.
Barrios, Vicente
Pozo, Jesús
Chowen, Julie A.
Martos-Moreno, Gabriel Á.
Hawkins, Federico
Dauber, Andrew
Domene, Horacio Mario
Yakar, Shoshana
Rosenfeld, Ron G.
Pérez-Jurado, Luis A.
Oxvig, Claus
Frystyk, Jan
Argente, Jesús
author_role author
author2 Barrios, Vicente
Pozo, Jesús
Chowen, Julie A.
Martos-Moreno, Gabriel Á.
Hawkins, Federico
Dauber, Andrew
Domene, Horacio Mario
Yakar, Shoshana
Rosenfeld, Ron G.
Pérez-Jurado, Luis A.
Oxvig, Claus
Frystyk, Jan
Argente, Jesús
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv PAPP-A2 deficiency
GH treatment
short stature
children
topic PAPP-A2 deficiency
GH treatment
short stature
children
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Context: Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that specifically cleaves IGFBP-3 and IGFBP-5. Mutations in the PAPP-A2 gene have recently been shown to cause postnatal growth failure in humans, with specific skeletal features, due to the resulting decrease in IGF-1 bioavailability. However, a pharmacological treatment of this entity is yet to be established. Case Description: A 10.5-year-old girl and a 6-year-old boy, siblings from a Spanish family, with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25.) and undetectable PAPP-A2 activity, were treated with progressive doses (40, 80, 100, and 120 mu;g/kg) of recombinant human IGF-1 (rhIGF-1) twice daily for 1 year. There was a clear increase in growth velocity and height in both siblings. Bioactive IGF-1 was increased, and spontaneous GH secretion was diminished after acute administration of rhIGF-1, whereas serum total IGF-1 and IGFBP-3 levels remained elevated. No episodes of hypoglycemia or any other secondary effects were observed during treatment. Conclusion: Short-term treatment with rhIGF-1 improves growth in patients with PAPP-A2 deficiency. (J Clin Endocrinol Metab 101: 3879-3883, 2016).
Fil: Muñoz Calvo, María T.. Universidad Autónoma de Madrid; España
Fil: Barrios, Vicente. Universidad Autónoma de Madrid; España
Fil: Pozo, Jesús. Universidad Autónoma de Madrid; España
Fil: Chowen, Julie A.. Universidad Autónoma de Madrid; España
Fil: Martos-Moreno, Gabriel Á.. Universidad Autónoma de Madrid; España
Fil: Hawkins, Federico. Universidad Complutense de Madrid; España
Fil: Dauber, Andrew. Cincinnati Children's Hospital Medical Center; Estados Unidos
Fil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
Fil: Yakar, Shoshana. New York University College of Dentistry; Estados Unidos
Fil: Rosenfeld, Ron G.. Oregon Health and Science University; Estados Unidos
Fil: Pérez-Jurado, Luis A.. Universitat Pompeu Fabra; España
Fil: Oxvig, Claus. University Aarhus; Dinamarca
Fil: Frystyk, Jan. University Aarhus; Dinamarca
Fil: Argente, Jesús. Universidad Autónoma de Madrid; España
description Context: Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that specifically cleaves IGFBP-3 and IGFBP-5. Mutations in the PAPP-A2 gene have recently been shown to cause postnatal growth failure in humans, with specific skeletal features, due to the resulting decrease in IGF-1 bioavailability. However, a pharmacological treatment of this entity is yet to be established. Case Description: A 10.5-year-old girl and a 6-year-old boy, siblings from a Spanish family, with short stature due to a homozygous loss-of-function mutation in the PAPP-A2 gene (p.D643fs25.) and undetectable PAPP-A2 activity, were treated with progressive doses (40, 80, 100, and 120 mu;g/kg) of recombinant human IGF-1 (rhIGF-1) twice daily for 1 year. There was a clear increase in growth velocity and height in both siblings. Bioactive IGF-1 was increased, and spontaneous GH secretion was diminished after acute administration of rhIGF-1, whereas serum total IGF-1 and IGFBP-3 levels remained elevated. No episodes of hypoglycemia or any other secondary effects were observed during treatment. Conclusion: Short-term treatment with rhIGF-1 improves growth in patients with PAPP-A2 deficiency. (J Clin Endocrinol Metab 101: 3879-3883, 2016).
publishDate 2016
dc.date.none.fl_str_mv 2016-11
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/11336/54951
Muñoz Calvo, María T.; Barrios, Vicente; Pozo, Jesús; Chowen, Julie A.; Martos-Moreno, Gabriel Á.; et al.; Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 101; 11; 11-2016; 3879-3883
0021-972X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/54951
identifier_str_mv Muñoz Calvo, María T.; Barrios, Vicente; Pozo, Jesús; Chowen, Julie A.; Martos-Moreno, Gabriel Á.; et al.; Treatment with recombinant human insulin-like growth factor-1 improves growth in patients with PAPP-A2 deficiency; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 101; 11; 11-2016; 3879-3883
0021-972X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1210/jc.2016-2751
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/101/11/3879/2764910
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 Endocrine Society
publisher.none.fl_str_mv Endocrine Society
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
_version_ 1848598158866644992
score 12.976206

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