2026-04-19T19:18:14Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/106142025-10-24T10:36:11Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc aguilar-riera, cristina author Clemente, Maria author Vázquez Méndez, Josefa Élida author Mogas Viñals, Eduard author Biagetti, Betina author Fabregas Martori, Ana author González-Llorens, Núria author Campos-Martorell, Ariadna author Yeste, Diego author 2023-11-16T09:04:13Z 2023-11-16T09:04:13Z 2023-10-31 Child; Genetic analysis; Macroadenoma Nen; Anàlisi genètic; Macroadenoma Niño; Análisis genético; Macroadenoma Background 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. http://hdl.handle.net/11351/10614 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 Pituitary macroadenomas in childhood and adolescence: a clinical analysis of 7 patients