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ea0099p513 | Pituitary and Neuroendocrinology | ECE2024

Novel mutations causing pachydermoperiostosis - hormonal and phenotypic alterations

Stelmachowska-Banaś Maria , Barry Sayka , Angurala Ishita , Rice Tom , Magid Kesson , Carreira Ana , Rai Ashutosh , Evans Amy , Bollington Mark , Kaur Vaishali , Alina Silaghi Cristina , McGregor Alan , Mandisodza Kudakwashe , Sahoo Jayaprakash , Gupta Rahul , Behera Kishore , Roy Ayan , Carr Ian , Loughrey Paul , Dutta Pinaki , Korbonits Marta

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...

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Novel mutations causing pachydermoperiostosis - hormonal and phenotypic alterations

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