GCM2 mutation in primary hyperparathyroidism - A Case Report

• Main Authors: Zuzanna Chmielowiec (Author), Magdalena Pach (Author), Natalia Wierzejska (Author), Agnieszka Fugas (Author), Karolina Smykiewicz (Author), Aneta Michalczewska (Author), Agnieszka Nowak (Author), Alicja Partyka (Author), Mariola Dziedzic (Author), Justyna Dobrzańska (Author)
• Format: Book
• Published: Kazimierz Wielki University, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Primary hyperparathyroidism is a common endocrine disorder. It is characterised by elevated parathyroid hormone (PTH) level causing hypercalcemia. 90-95% of cases have a spontaneous cause, with the remaining 5-10% having a genetic basis. On routine examination, a 47-year-old patient was found to hav...