Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients
Child; Genetic analysis; Macroadenoma
| Autores: | , , , , , , , , |
|---|---|
| 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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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 |
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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 |