A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia

This case unveils a rare genetic intersection in which autosomal-dominant hereditary hemorrhagic telangiectasia (HHT) and Turner syndrome coexist in a 53-year-old woman. Clinical signs and symptoms included abdominal pain, arteriovenous malformations, and hormonal irregularities. Diagnostic testing revealed Mosaic Turner syndrome and an ENG gene mutation linked to HHT—challenging conventional understanding and prompting exploration of possible shared pathophysiologic mechanisms. The case underscores the necessity of thorough genetic evaluations for patients with overlapping symptoms, offering insights into genetic interactions and personalized treatment approaches.