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A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia

Year: 2025

Type: article

Abstract: 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.

Source: Annals of Internal Medicine Clinical Cases

DOI: 10.7326/aimcc.2024.0746

Authors: Diego Mateo Cornejo Gonzalez, Imran Naeem Aziz, Shreeya Atul Sawant, Reem Yousef Darwish, Joseph Guan

Institutions: John H. Stroger, Jr. Hospital of Cook County, Midwestern University

Language: English

Topic: Vascular Anomalies and Treatments

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4406136364

FWCI:

Cites: 11

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Related to: 10