Same Phenotype in Children with Growth Hormone Deficiency and Resistance

Autores
Ioimo, Irene; Guarracino, Carmen; Meazza, Cristina; Domene, Horacio Mario; Bozzola, Mauro
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. *e first case showed frontal bossing, dollface, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. After PCR amplification of the whole GH1 gene, type IA idiopathic GHD was diagnosed. *e second case had cranium hypoplasia, a large head, protruding forehead, saddle nose, underdeveloped mandible, and a micropenis. Basal GH levels were high (28.4 ng/ml) while serum IGF-I levels were low and unchangeable during the IGF-I generation test. Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulatinglevels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. *ese classical cases show the importance of differential diagnosis in children with severe short stature.
Fil: Ioimo, Irene. University of Pavia; Italia
Fil: Guarracino, Carmen. University of Pavia; Italia
Fil: Meazza, Cristina. University of Pavia; Italia
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: Bozzola, Mauro. University of Pavia; Italia
Materia
GROWTH HORMONE DEFICIENCY
TYPE IA
GROWTH HORMONE RESISTANCE
PHENOTYPES
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:11336/87167
Acceder
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network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Same Phenotype in Children with Growth Hormone Deficiency and ResistanceIoimo, IreneGuarracino, CarmenMeazza, CristinaDomene, Horacio MarioBozzola, MauroGROWTH HORMONE DEFICIENCYTYPE IAGROWTH HORMONE RESISTANCEPHENOTYPEShttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. *e first case showed frontal bossing, dollface, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. After PCR amplification of the whole GH1 gene, type IA idiopathic GHD was diagnosed. *e second case had cranium hypoplasia, a large head, protruding forehead, saddle nose, underdeveloped mandible, and a micropenis. Basal GH levels were high (28.4 ng/ml) while serum IGF-I levels were low and unchangeable during the IGF-I generation test. Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulatinglevels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. *ese classical cases show the importance of differential diagnosis in children with severe short stature.Fil: Ioimo, Irene. University of Pavia; ItaliaFil: Guarracino, Carmen. University of Pavia; ItaliaFil: Meazza, Cristina. University of Pavia; ItaliaFil: 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: Bozzola, Mauro. University of Pavia; ItaliaHindawi Publishing Corporation2018-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/87167Ioimo, Irene; Guarracino, Carmen; Meazza, Cristina; Domene, Horacio Mario; Bozzola, Mauro; Same Phenotype in Children with Growth Hormone Deficiency and Resistance; Hindawi Publishing Corporation; Case Reports in Pediatrics; 2018; 4-2018; 1-4; 59028352090-68032090-6811CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.hindawi.com/journals/cripe/2018/5902835/info:eu-repo/semantics/altIdentifier/doi/10.1155/2018/5902835info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-11-26T08:45:02Zoai:ri.conicet.gov.ar:11336/87167instacron: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:34982025-11-26 08:45:03.272CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Same Phenotype in Children with Growth Hormone Deficiency and Resistance
title Same Phenotype in Children with Growth Hormone Deficiency and Resistance
spellingShingle Same Phenotype in Children with Growth Hormone Deficiency and Resistance
Ioimo, Irene
GROWTH HORMONE DEFICIENCY
TYPE IA
GROWTH HORMONE RESISTANCE
PHENOTYPES
title_short Same Phenotype in Children with Growth Hormone Deficiency and Resistance
title_full Same Phenotype in Children with Growth Hormone Deficiency and Resistance
title_fullStr Same Phenotype in Children with Growth Hormone Deficiency and Resistance
title_full_unstemmed Same Phenotype in Children with Growth Hormone Deficiency and Resistance
title_sort Same Phenotype in Children with Growth Hormone Deficiency and Resistance
dc.creator.none.fl_str_mv Ioimo, Irene
Guarracino, Carmen
Meazza, Cristina
Domene, Horacio Mario
Bozzola, Mauro
author Ioimo, Irene
author_facet Ioimo, Irene
Guarracino, Carmen
Meazza, Cristina
Domene, Horacio Mario
Bozzola, Mauro
author_role author
author2 Guarracino, Carmen
Meazza, Cristina
Domene, Horacio Mario
Bozzola, Mauro
author2_role author
author
author
author
dc.subject.none.fl_str_mv GROWTH HORMONE DEFICIENCY
TYPE IA
GROWTH HORMONE RESISTANCE
PHENOTYPES
topic GROWTH HORMONE DEFICIENCY
TYPE IA
GROWTH HORMONE RESISTANCE
PHENOTYPES
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. *e first case showed frontal bossing, dollface, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. After PCR amplification of the whole GH1 gene, type IA idiopathic GHD was diagnosed. *e second case had cranium hypoplasia, a large head, protruding forehead, saddle nose, underdeveloped mandible, and a micropenis. Basal GH levels were high (28.4 ng/ml) while serum IGF-I levels were low and unchangeable during the IGF-I generation test. Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulatinglevels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. *ese classical cases show the importance of differential diagnosis in children with severe short stature.
Fil: Ioimo, Irene. University of Pavia; Italia
Fil: Guarracino, Carmen. University of Pavia; Italia
Fil: Meazza, Cristina. University of Pavia; Italia
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: Bozzola, Mauro. University of Pavia; Italia
description By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. *e first case showed frontal bossing, dollface, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. After PCR amplification of the whole GH1 gene, type IA idiopathic GHD was diagnosed. *e second case had cranium hypoplasia, a large head, protruding forehead, saddle nose, underdeveloped mandible, and a micropenis. Basal GH levels were high (28.4 ng/ml) while serum IGF-I levels were low and unchangeable during the IGF-I generation test. Laron syndrome was confirmed after the molecular analysis of the GH receptor (GHR) gene. IGHD type IA and Laron syndrome is characterized by opposite circulatinglevels of GH, while both have reduced levels of IGF-I, with an overlapping clinical phenotype, lacking the effects of IGF-I on cartilage. *ese classical cases show the importance of differential diagnosis in children with severe short stature.
publishDate 2018
dc.date.none.fl_str_mv 2018-04
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/11336/87167
Ioimo, Irene; Guarracino, Carmen; Meazza, Cristina; Domene, Horacio Mario; Bozzola, Mauro; Same Phenotype in Children with Growth Hormone Deficiency and Resistance; Hindawi Publishing Corporation; Case Reports in Pediatrics; 2018; 4-2018; 1-4; 5902835
2090-6803
2090-6811
CONICET Digital
CONICET
url http://hdl.handle.net/11336/87167
identifier_str_mv Ioimo, Irene; Guarracino, Carmen; Meazza, Cristina; Domene, Horacio Mario; Bozzola, Mauro; Same Phenotype in Children with Growth Hormone Deficiency and Resistance; Hindawi Publishing Corporation; Case Reports in Pediatrics; 2018; 4-2018; 1-4; 5902835
2090-6803
2090-6811
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.hindawi.com/journals/cripe/2018/5902835/
info:eu-repo/semantics/altIdentifier/doi/10.1155/2018/5902835
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 Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
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 13.011256

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