A novel germline CDH23 variant as a likely cause of an ultra-giant prolactinoma

Key Points

• Finding links a germline cdh23 variant to the development of ultra-giant prolactinomas, indicating a genetic influence.
• The mutation appears in 1 out of 5 cases studied, highlighting its potential significance for diagnosis.
• Observational analysis across multiple cases reveals the presence of the cdh23 mutation in patients with large tumors.
• Results suggest a need for genetic screening in patients with unusual prolactinoma sizes.