Endocrine Abstracts

Primary aldosteronism (PA) is the cause of 5–10% of hypertension, surgically curable in patients with unilateral aldosterone-producing adenomas (APAs). However <1% of patients are currently diagnosed and cured. Newer and simpler modalities of diagnosis and treatment are required. The aim of FABULAS (a feasibility study of endoscopic ultrasound-guided ablation as a non-surgical, adrenal sparing treatment for aldosterone-producing adenomas) is to determine in 30 patient...

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, short stature, respiratory difficulties, distinctive facial features, skeletal abnormalities (such as kyphoscoliosis, dysostosis and osteopenia) and delayed neural development, and is due to heterozygous mutations that are clustered in exons 6–10 of the transcription factor nuclear factor I/X (NFIX) gene. These frameshift and splice-site NFIX variants result in t...