Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)

Introduction: Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods: Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. Results: All patients had macroadenomas and their mean final height was 2.01 m. The mean age at diagnosis was 16 years, and the most common symptoms were headache (66%) and hyperhidrosis (66%). All patients had acral changes, and one had visual impairment secondary to compression of the optic chiasm. All patients underwent surgery, and 5 (83%) required additional therapy for biochemical control, including radiotherapy (n = 4, 66%), somatostatin analogues (n = 5, 83%), cabergoline (n = 3, 50%), and pegvisomant (n = 2, 33%). Three patients (50%) achieved complete biochemical control, while 2 patients showed IGF-1 normalization with pegvisomant. Two patients were genetically related and presented a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene (pathogenic variant, c.504G>A in exon 4, p.Trp168*), fulfilling the diagnostic criteria of familial isolated pituitary adenoma. Conclusions: This is the largest case series of patients with gigantism described to date in Colombia. Transsphenoidal surgery was the first-choice procedure, but additional pharmacological therapy was usually required. Mutations in the AIP gene should be considered in familial cases of GH-producing adenomas

• Autores: Rojas García, William; Tovar Cortes, Henry; Flórez Romero, Andrés
• Tipo de recurso: Article of journal
• Fecha de publicación: 2019
• Institución: Fundación Universitaria de Ciencias de la Salud - FUCS
• Repositorio: Repositorio Digital Institucional ReDi
• Idioma: eng
• OAI Identifier: oai:repositorio.fucsalud.edu.co:001/2596
• Acceso en línea: https://repositorio.fucsalud.edu.co/handle/001/2596
• Palabra clave: Pituitary diseases; Pituitary neoplasms; Growth hormone; Gigantism; Acromegaly; Acromegalia; Gigantismo; Hormona del crecimiento; Neoplasias hipofisárias; Enfermedades de la hipófisis
• Rights: openAccess
• License: Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)