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Giant pituitary adenoma: histological types, clinical features and therapeutic approaches
Giant pituitary adenomas comprise about 6–10% of all pituitary tumors. They are mostly clinically non-functioning adenomas and occur predominantly in...
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How are growth hormone and insulin-like growth factor-1 reported as markers for drug effectiveness in clinical acromegaly research? A comprehensive methodologic review
ObjectiveIn rare disease research, most randomized prospective clinical trials can only use limited number of patients and are comprised of highly...
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Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening
IntroductionPituitary gigantism is a rare condition caused by growth hormone secreting hypersecretion, usually by a pituitary tumor. Acromegaly and...
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A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred
Familial isolated pituitary adenomas (FIPA) constitute 2–3% of pituitary tumours. AIP is the most commonly mutated gene in FIPA. We herein report a...
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Somatostatin receptor ligands in the treatment of acromegaly
First-generation somatostatin receptors ligands (SRL) are the mainstay in the medical treatment of acromegaly, however the percentage of patients...
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Acromegaly: clinical features at diagnosis
BackgroundAcromegaly is a rare and underdiagnosed disorder caused, in more than 95% of cases, by a growth hormone (GH)-secreting pituitary adenoma....
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Epidemiology of acromegaly: review of population studies
Acromegaly is a rare condition necessitating large population studies for the generation of reliable epidemiological data. In this review, we...
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Aryl Hydrocarbon Receptor–Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function
Mutations spanning the entire aryl hydrocarbon receptor–interacting protein ( AIP) gene have been found in isolated familial cases of pituitary...
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Pregnancy and acromegaly
IntroductionAcromegaly is a rare disorder in which, due to the high incidence of secondary hypogonadism, pregnancies are relatively rare. However,...
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Common and Rare Manifestations of Neuromyelitis Optica Spectrum Disorder
The discovery of a highly specific biomarker of neuromyelitis optica (NMO)—the anti-aquaporin-4 (AQP4) antibody—has opened new paths to understanding...
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AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience
Although aryl hydrocarbon receptor-interacting protein ( AIP ) mutations are rare in sporadic acromegaly, their prevalence among young patients is...
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Rare case of Cushing’s disease due to double ACTH-producing adenomas, one located in the pituitary gland and one into the stalk
We describe a patient affected by Cushing’s disease due to the presence of double pituitary adenomas, one located within the anterior pituitary and...
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Familial acromegaly due to aryl hydrocarbon receptor-interacting protein (AIP) gene mutation in a Turkish cohort
Aryl hydrocarbon receptor-interacting protein (AIP) is associated with 15–20 % of familial isolated pituitary adenomas and 50–80 % of cases with AIP...
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A novel germline mutation in the aryl hydrocarbon receptor-interacting protein (Aip) gene in an Italian family with gigantism
PurposeAcromegaly usually occurs as a sporadic disease, but it may be a part of familial pituitary tumor syndromes in rare cases. Germline mutations...
