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dc.contributor.author
Wit, J. M.
dc.contributor.author
Van Duyvenvoorde, H. A.
dc.contributor.author
Scheltinga, S. A.
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De Bruin, S.
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Hafkenscheid, L.
dc.contributor.author
Kant, S. G.
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Ruivenkamp, C. A. L.
dc.contributor.author
Gijsbers, A. C. J.
dc.contributor.author
Van Doorn, J.
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Feigerlova, E.
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Noordam, C.
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Walenkamp, M. J.
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Claahsen-Van De Grinten, H.
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Stouthart, P.
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Bonapart, I. E.
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Pereira, A. M.
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Gosen, J.
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Delemarre-Van De Waal, H.A.
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Hwa, V.
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Breuning, M.H.
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Domene, Horacio Mario
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dc.contributor.author
Oostdijk, W.
dc.contributor.author
Losekoot, M.
dc.date.available
2019-01-10T15:12:18Z
dc.date.issued
2012-06
dc.identifier.citation
Wit, J. M.; Van Duyvenvoorde, H. A.; Scheltinga, S. A.; De Bruin, S.; Hafkenscheid, L.; et al.; Genetic analysis of short children with apparent growth hormone insensitivity; Karger; Hormone Research in Paediatrics; 77; 5; 6-2012; 320-333
dc.identifier.issn
1663-2826
dc.identifier.uri
http://hdl.handle.net/11336/67887
dc.description.abstract
Background/Aims: In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing GH1, GHR, STAT5B, IGF1, and IGFALS in children with GH insensitivity. Subjects and Methods: Patients were divided into three groups: group 1 (height SDS <-2.5, IGF-I <-2 SDS, n = 9), group 2 (height SDS -2.5 to -1.9, IGF-I <-2 SDS, n = 6) and group 3 (height SDS <-1.9, IGF-I -2 to 0 SDS, n = 21). An IGF-I generation test was performed in 11 patients. Genomic DNA was used for direct sequencing, multiplex ligation-dependent probe amplification and whole-genome SNP array analysis. Results: Three patients in group 1 had two novel heterozygous STAT5B mutations, in two combined with novel IGFALS variants. In groups 2 and 3 the association between genetic variants and short stature was uncertain. The IGF-I generation test was not predictive for the growth response to GH treatment. Conclusion: In severely short children with IGF-I deficiency, genetic assessment is advised. Heterozygous STAT5B mutations, with or without heterozygous IGFALS defects, may be associated with GH insensitivity. In children with less severe short stature or IGF-I deficiency, functional variants are rare. Copyright © 2012 S. Karger AG, Basel.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Karger
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Acid-Labile Subunit
dc.subject
Genetics
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Gh/Igf-1 Axis
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Gh1 Gene
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Growth Disorders
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Growth Hormone
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Growth Hormone Receptor
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Igf-1
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Stat5b
dc.subject.classification
Medicina Critica y de Emergencia
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dc.subject.classification
Medicina Clínica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Genetic analysis of short children with apparent growth hormone insensitivity
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-01-09T17:46:50Z
dc.journal.volume
77
dc.journal.number
5
dc.journal.pagination
320-333
dc.journal.pais
Suiza
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dc.journal.ciudad
Basel
dc.description.fil
Fil: Wit, J. M.. Leiden University; Países Bajos
dc.description.fil
Fil: Van Duyvenvoorde, H. A.. Leiden University; Países Bajos
dc.description.fil
Fil: Scheltinga, S. A.. Leiden University; Países Bajos
dc.description.fil
Fil: De Bruin, S.. Leiden University; Países Bajos
dc.description.fil
Fil: Hafkenscheid, L.. Leiden University; Países Bajos
dc.description.fil
Fil: Kant, S. G.. Leiden University; Países Bajos
dc.description.fil
Fil: Ruivenkamp, C. A. L.. Leiden University; Países Bajos
dc.description.fil
Fil: Gijsbers, A. C. J.. Leiden University; Países Bajos
dc.description.fil
Fil: Van Doorn, J.. University Medical Center Utrecht; Países Bajos
dc.description.fil
Fil: Feigerlova, E.. Oregon Health And Science University; Estados Unidos
dc.description.fil
Fil: Noordam, C.. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Walenkamp, M. J.. Vrije Universiteit; Países Bajos
dc.description.fil
Fil: Claahsen-Van De Grinten, H.. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Stouthart, P.. Orbis Medical Centre; Países Bajos
dc.description.fil
Fil: Bonapart, I. E.. Venizelion General Hospital; Países Bajos
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Fil: Pereira, A. M.. Leiden University; Países Bajos
dc.description.fil
Fil: Gosen, J.. Rijnland Hospital; Países Bajos
dc.description.fil
Fil: Delemarre-Van De Waal, H.A.. Leiden University; Países Bajos
dc.description.fil
Fil: Hwa, V.. Oregon Health And Science University; Estados Unidos
dc.description.fil
Fil: Breuning, M.H.. Leiden University; Países Bajos
dc.description.fil
Fil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina
dc.description.fil
Fil: Oostdijk, W.. Leiden University; Países Bajos
dc.description.fil
Fil: Losekoot, M.. Leiden University; Países Bajos
dc.journal.title
Hormone Research in Paediatrics
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1159/000338462
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/Abstract/338462
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