Endocrine Abstracts

Introduction: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHOA) is a rare genetic condition characterised by digital clubbing, pachydermia, hyperhidrosis, cutis verticis gyrata and periostosis. The SLCO2A1 transporter and HPGD enzyme genes play an important role in prostaglandin metabolism, hence loss of function mutations in them causes PHOA. To date, according to the VarSome database 101 and 41 variants have been identified in the SLCO...

Non-functioning pituitary adenomas (NFPAs) are the second most common subtype (15-43%) of all clinically presenting pituitary adenomas. Although the primary treatment of symptomatic NFPAs is surgery, gross total resection is achieved only in about 66% of the cases, and 20% of gross total resected tumours recur after 10 years. Despite recent advances in medical management of pituitary tumours, NFPAs remain the only subtype with no widely accepted pharmacological treatment. Expr...

Background: There is no effective medical treatment available for non-functioning pituitary neuroendocrine tumours (NF-PitNETs). Recurrence (7-12%) or incomplete resection (30-45%) is a common feature. Thus, finding novel medical therapies to help the management of these tumours would be of great value. By using high-throughput mass spectrometry combined with functional characterisation, we explored novel therapeutic targets for NF-PitNETs.<p class="abstex...