Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients

Child; Genetic analysis; Macroadenoma

Detalles Bibliográficos
Autores: aguilar-riera, cristina, Clemente, Maria, Vázquez Méndez, Josefa Élida, Mogas Viñals, Eduard, Biagetti, Betina, Fabregas Martori, Ana, González-Llorens, Núria, Campos-Martorell, Ariadna, Yeste, Diego
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Departament de Salut de la Generalitat de Catalunya (DS)
Repositorio:Scientia. Dipòsit d'Informació Digital del Departament de Salut
OAI Identifier:oai:scientiasalut.gencat.cat:11351/10614
Acceso en línea:https://hdl.handle.net/11351/10614
Access Level:acceso abierto
Palabra clave:Adenoma
Hipòfisi - Tumors - Aspectes genètics
Adolescents
DISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Pituitary Neoplasms
NAMED GROUPS::Persons::Age Groups::Adolescent
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Adenoma
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias hipofisarias
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adolescente
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::adenoma
Otros calificadores::Otros calificadores::Otros calificadores::/genética
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network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
title Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
spellingShingle Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
aguilar-riera, cristina
Adenoma
Hipòfisi - Tumors - Aspectes genètics
Adolescents
DISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Pituitary Neoplasms
NAMED GROUPS::Persons::Age Groups::Adolescent
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Adenoma
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias hipofisarias
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adolescente
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::adenoma
Otros calificadores::Otros calificadores::Otros calificadores::/genética
title_short Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
title_full Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
title_fullStr Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
title_full_unstemmed Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
title_sort Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
dc.creator.none.fl_str_mv aguilar-riera, cristina
Clemente, Maria
Vázquez Méndez, Josefa Élida
Mogas Viñals, Eduard
Biagetti, Betina
Fabregas Martori, Ana
González-Llorens, Núria
Campos-Martorell, Ariadna
Yeste, Diego
author aguilar-riera, cristina
author_facet aguilar-riera, cristina
Clemente, Maria
Vázquez Méndez, Josefa Élida
Mogas Viñals, Eduard
Biagetti, Betina
Fabregas Martori, Ana
González-Llorens, Núria
Campos-Martorell, Ariadna
Yeste, Diego
author_role author
author2 Clemente, Maria
Vázquez Méndez, Josefa Élida
Mogas Viñals, Eduard
Biagetti, Betina
Fabregas Martori, Ana
González-Llorens, Núria
Campos-Martorell, Ariadna
Yeste, Diego
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Aguilar-Riera C, González-Llorens N, Mogas E] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Clemente M, Yeste D] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER Enfermedades Raras, Instituto Carlos III, Madrid, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Campos-Martorell A, Fàbregas A] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Biagetti B] Servei d’Endocrinologia i Nutrició, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Vázquez E] Servei de Radiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Adenoma
Hipòfisi - Tumors - Aspectes genètics
Adolescents
DISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Pituitary Neoplasms
NAMED GROUPS::Persons::Age Groups::Adolescent
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Adenoma
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias hipofisarias
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adolescente
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::adenoma
Otros calificadores::Otros calificadores::Otros calificadores::/genética
topic Adenoma
Hipòfisi - Tumors - Aspectes genètics
Adolescents
DISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Pituitary Neoplasms
NAMED GROUPS::Persons::Age Groups::Adolescent
DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Adenoma
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias hipofisarias
DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adolescente
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::adenoma
Otros calificadores::Otros calificadores::Otros calificadores::/genética
description Child; Genetic analysis; Macroadenoma
publishDate 2023
dc.date.none.fl_str_mv 2023
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/10614
url https://hdl.handle.net/11351/10614
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Clinical Diabetes and Endocrinology;9
https://doi.org/10.1186/s40842-023-00153-6
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv Scientia
reponame:Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname:Departament de Salut de la Generalitat de Catalunya (DS)
instname_str Departament de Salut de la Generalitat de Catalunya (DS)
reponame_str Scientia. Dipòsit d'Informació Digital del Departament de Salut
collection Scientia. Dipòsit d'Informació Digital del Departament de Salut
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869415902506647552
spelling Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patientsaguilar-riera, cristina Clemente, MariaVázquez Méndez, Josefa ÉlidaMogas Viñals, EduardBiagetti, BetinaFabregas Martori, AnaGonzález-Llorens, NúriaCampos-Martorell, AriadnaYeste, DiegoAdenomaHipòfisi - Tumors - Aspectes genèticsAdolescentsDISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Pituitary NeoplasmsNAMED GROUPS::Persons::Age Groups::AdolescentDISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::AdenomaOther subheadings::Other subheadings::Other subheadings::/geneticsENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias hipofisariasDENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adolescenteENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::adenomaOtros calificadores::Otros calificadores::Otros calificadores::/genéticaChild; Genetic analysis; MacroadenomaNen; Anàlisi genètic; MacroadenomaNiño; Análisis genético; MacroadenomaBackground Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2–6% of all intracranial neoplasms. Delayed puberty, growth retardation, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs, with the most frequent being prolactinomas. Case presentation A retrospective review of the clinical features and outcomes of 7 pediatric patients with pituitary macroadenomas was conducted. We included PPAs in patients under 18 years at diagnosis with diameters larger than 10 mm by magnetic resonance (MRI). Six patients were males (85%), with age at diagnosis ranging from 8 to 15 (median 14 ± 2.8SDS). The primary symptoms that led to medical attention were growth retardation, gigantism and secondary amenorrhea. The visual field was reduced in three cases (42%). Suprasellar extension was present in 3 subjects, and one had a giant adenoma. Adenomas were clinically functioning in 6 patients (85%) (three prolactinomas, two somatropinomas, one secreting FSH and one no-producer). The prolactinomas responded to treatment with cabergoline. For the rest, one required transsphenoidal surgery and the other three both surgery and radiotherapy. All patients undergoing radiotherapy had secondary panhypopituitarism. In relation to the genetic studies, two patients presented a pathogenic mutation of the AIP gene and one of the MEN1. Discusion and conclusion Pediatric pituitary macroadenomas are a distinct entity, mostly found in males and with a predominance of functional tumors leading to detrimental effects on growth and puberty in addition to neuro-ophthalmological manifestations. It is important to perform genetic studies in patients with macroadenomas appearing under the age of 18 years as genetic and syndromic associations are more frequent in this age group.BMCInstitut Català de la Salut[Aguilar-Riera C, González-Llorens N, Mogas E] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Clemente M, Yeste D] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER Enfermedades Raras, Instituto Carlos III, Madrid, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Campos-Martorell A, Fàbregas A] Unitat d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Biagetti B] Servei d’Endocrinologia i Nutrició, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Vázquez E] Servei de Radiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202320232023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/10614Scientiareponame:Scientia. Dipòsit d'Informació Digital del Departament de Salutinstname:Departament de Salut de la Generalitat de Catalunya (DS)InglésClinical Diabetes and Endocrinology;9https://doi.org/10.1186/s40842-023-00153-6Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:scientiasalut.gencat.cat:11351/106142026-06-12T09:38:37Z
score 15,81155