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hrp0098rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

CYP24A1 MUTATIONS: CLINICAL AND LABORATORY FEATURES IN PATIENTS PRESENTING WITH HYPERCALCEMIA

Kurt Ilknur , Eltan Mehmet , Yavas Abalı Zehra , Alavanda Ceren , Demir Senol , Ata Pınar , Haliloglu Belma , Guran Tulay , Bereket Abdullah , Turan Serap

Background: The inactivating mutations of CYP24A1 (OMIM*126065) were first identified in idiopathic infantile hypercalcemia (IH) and named IH-type1 (IH1). However, biallelic mutations were later associated with hypercalcemia at various ages. In our study, we aimed to present the clinical and laboratory findings of our patients who presented with hypercalcemia and were found to have a mutation in CYP24A1.Methods and Resul...

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hrp0098p2-298 | Late Breaking | ESPE2024

A real-world data analysis of 37 pediatric patients with pheochromocytoma and paraganglioma: Evaluation of the concordance between current diagnostic and treatment algorithms and clinical management practices in resource-limited settings

Kurt Ilknur , Gurpinar Tosun Busra , Gul Uslu Nihal , Ozalp Kizilay Deniz , Dikmen Ibrahim , Ozguc Comlek Fatma , Bugrul Fuat , Bezen Digdem , Hatipoglu Nihal , Dogan Murat , Deniz Papatya Cakir Esra , Ucar Ahmet , Ozcabi Bahar , Yildirim Cakar Didem , Hatun Aytac Kaplan Emel , Sutcu Zumrut , Nur Hepokur Merve , Catli Gonul , Ahmet Ucakturk S , Demir Senol , Siklar Zeynep , Haliloglu Belma , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Pheochromocytomas and paragangliomas (PPGLs) are rare pediatric neuroendocrine tumors. Data on the diagnosis, treatment and follow-up of PPGL in children are limited and lack standardization. Furthermore, variations in access to diagnostic and therapeutic resources across centers contribute to inconsistencies in clinical management.Aim: To identify variations in the clinical management of paediatric PPGL with...

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ESPE Abstracts

CYP24A1 MUTATIONS: CLINICAL AND LABORATORY FEATURES IN PATIENTS PRESENTING WITH HYPERCALCEMIA

A real-world data analysis of 37 pediatric patients with pheochromocytoma and paraganglioma: Evaluation of the concordance between current diagnostic and treatment algorithms and clinical management practices in resource-limited settings

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