Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
| Autor: | Andrés Florez Romero, Henry Tovar Cortes, William Rojas García |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Male
Pediatrics Endocrinology Diabetes and Metabolism medicine.medical_treatment lcsh:Medicine Pituitary neoplasm Hormona del crecimiento lcsh:Diseases of the endocrine glands. Clinical endocrinology 0302 clinical medicine Insulin-Like Growth Factor I Hyperhidrosis Intracellular Signaling Peptides and Proteins Pedigree Treatment Outcome 030220 oncology & carcinogenesis medicine.symptom Gigantismo medicine.drug pituitary neoplasms Adenoma medicine.medical_specialty Adolescent Pituitary diseases 030209 endocrinology & metabolism Neoplasias hipofisárias Colombia Acromegalia Young Adult 03 medical and health sciences Cabergoline Acromegaly medicine Humans Sex Distribution gigantism Retrospective Studies Transsphenoidal surgery lcsh:RC648-665 Enfermedades de la hipófisis business.industry lcsh:R medicine.disease Gigantism Mutation Pegvisomant growth hormone acromegaly Growth Hormone-Secreting Pituitary Adenoma business Follow-Up Studies |
| Zdroj: | Archives of Endocrinology and Metabolism Archives of Endocrinology and Metabolism, Volume: 63, Issue: 4, Pages: 385-393, Published: 29 JUL 2019 Archives of Endocrinology and Metabolism v.63 n.4 2019 Arquivos de Endocrinologia e Metabolismo Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM Archives of Endocrinology and Metabolism, Issue: ahead, Published: 29 JUL 2019 Repositorio Digital Institucional ReDi Fundación Universitaria de Ciencias de la Salud-FUCS instacron:Fundación Universitaria de Ciencias de la Salud-FUCS |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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