Abstract
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. Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. 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. 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.
Highlights
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
Gigantism can occur sporadically or have a hereditary component (2); in a case series by Rostomyan and cols. (3), a genetic cause was identified in 46% of the cases, of which the most common was a mutation in the hydrocarbon receptor-interacting protein (AIP) gene (28%), followed by X-linked acrogigantism (X-LAG; 10%)
We present the clinical history of 2 patients with gigantism secondary to familial isolated pituitary adenoma (FIPA) and aryl hydrocarbon receptor-interacting protein (AIP) mutation
Summary
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. Gigantism is a rare pediatric disease, with an incidence of 8 to 11 cases per million individuals per year. This disease is characterized by increased production of growth hormone (GH) when the epiphyses are still open, and in most cases is secondary to a pituitary adenoma (1). Complete remission of the disease is not usually achieved with surgical intervention alone and pharmacological therapy becomes necessary (2,5-7), of which somatostatin analogues (SSA) is the most common. In cases that fail to respond to surgery and pharmacological treatment, radiotherapy is used; the risk of hypopituitarism should be taken into account (8)
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