Endocrine Abstracts

Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 30% of pituitary gigantism cases. However, pathological accelerated growth and/or tall stature can be unrelated to the growth hormone (GH) axis, and may occur in isolation or as part of a syndrome, such as in Klinefelter, Marfan or Sotos syndromes. We report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation-positive GH-secreting pi...

Background: Medical treatment for acromegaly (characterized by excess growth hormone [GH] production) includes somatostatin receptor ligands (SRLs), dopamine agonists (DAs), and GH receptor antagonists (GHRAs). However, recent real-world United States (US) treatment evaluations are few. We present treatment patterns for patients receiving medications for acromegaly (1/1/2010–31/7/2022).Methods: De-identified data were extracted from MarketScan&...

Introduction: A monthly, long-acting formulation of pasireotide normalized or reduced mean urinary free cortisol (mUFC) in most patients with Cushing’s disease (CD) in a multicentre, double-blind, Phase III study. The effects of long-acting pasireotide on signs and symptoms of CD are reported here.Methods: Patients with persistent/recurrent (n=123) or de novo (non-surgical candidates; n=27) CD and mUFC≥1.5–5xULN...

J Mol Endocrinol October 1, 2015 55 81–94. DOI: 10.1530/JME-15-0119...

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...