Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
Arch. endocrinol. metab. (Online)
; 63(4): 385-393, July-Aug. 2019. tab, graf
Article
em En
| LILACS
| ID: biblio-1019354
Biblioteca responsável:
BR1.1
ABSTRACT
ABSTRACT 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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Neoplasias Hipofisárias
/
Adenoma
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Gigantismo
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Limite:
Adolescent
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Humans
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Male
País/Região como assunto:
America do sul
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Colombia
Idioma:
En
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
ENDOCRINOLOGIA
/
METABOLISMO
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Colômbia
País de publicação:
Brasil