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

Detalhes bibliográficos
Autor(a) principal: García,William Rojas
Data de Publicação: 2019
Outros Autores: Cortes,Henry Tovar, Romero,Andrés Florez
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de Endocrinologia e Metabolismo (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972019000700385
Resumo: 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.
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spelling Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)Pituitary diseasesgigantismgrowth hormonepituitary neoplasmsacromegalyABSTRACT 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.Sociedade Brasileira de Endocrinologia e Metabologia2019-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972019000700385Archives of Endocrinology and Metabolism v.63 n.4 2019reponame:Arquivos de Endocrinologia e Metabolismo (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.20945/2359-3997000000150info:eu-repo/semantics/openAccessGarcía,William RojasCortes,Henry TovarRomero,Andrés Florezeng2019-08-19T00:00:00Zoai:scielo:S2359-39972019000700385Revistahttps://www.aem-sbem.com/https://old.scielo.br/oai/scielo-oai.php||aem.editorial.office@endocrino.org.br2359-42922359-3997opendoar:2019-08-19T00:00Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false
dc.title.none.fl_str_mv Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
title Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
spellingShingle Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
García,William Rojas
Pituitary diseases
gigantism
growth hormone
pituitary neoplasms
acromegaly
title_short Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
title_full Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
title_fullStr Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
title_full_unstemmed Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
title_sort Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
author García,William Rojas
author_facet García,William Rojas
Cortes,Henry Tovar
Romero,Andrés Florez
author_role author
author2 Cortes,Henry Tovar
Romero,Andrés Florez
author2_role author
author
dc.contributor.author.fl_str_mv García,William Rojas
Cortes,Henry Tovar
Romero,Andrés Florez
dc.subject.por.fl_str_mv Pituitary diseases
gigantism
growth hormone
pituitary neoplasms
acromegaly
topic Pituitary diseases
gigantism
growth hormone
pituitary neoplasms
acromegaly
description 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.
publishDate 2019
dc.date.none.fl_str_mv 2019-08-01
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv Archives of Endocrinology and Metabolism v.63 n.4 2019
reponame:Arquivos de Endocrinologia e Metabolismo (Online)
instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
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reponame_str Arquivos de Endocrinologia e Metabolismo (Online)
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repository.name.fl_str_mv Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
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