hrp0098p2-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Investigation of GNAS Gene Mutation and Clinical Correlations in Patients Followed with the Diagnosis of Pseudohypoparathyroidism

Coban Rabia , Topuz Melike , Çelebi Bitkin Eda , Deniz Papatya Çakir Esra

Objective: To evaluate the correlation of GNAS gene mutation in clinically diagnosed pseudohypoparathyroidism patients and to examine accompanying hormonal abnormalities and phenotypic features.Materials and Methods: Our study group consisted of 6 patients who were followed and treated with the diagnosis of pseudohypoparathyroidism in our clinic. Calcium (Ca), phosphorus (P), and parathyroid hormone (PTH) levels were eva...