Endocrine Abstracts

A 16 year old previously healthy boy from Manipur, India was admitted with rapid onset quadraparesis, vomiting and diarrhoea, on a background 3 month history of increasing facial puffiness and progressive widespread rash. Investigations revealed hyperglycaemia, hypokalaemia and a raised ESR. The basal serum cortisol was 103 μg/dl (n=7–22 μg/dl) at 0800 h. 24-h urinary free cortisol failed to suppress with 8 mg of dexamethasone. Plasma ACTH and serum ald...

Background: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) is a rare genetic disease characterised by clinical signs and symptoms which may overlap with acromegaly (pachydermia, hyperhidrosis and enlargement of hands and feet). In the majority of cases, the disease is due to biallelic loss-of-function variants in either of two genes, SLCO2A1 and HPGD playing an important role in prostaglandin metabolism. Although PHO patients are often ref...