hrp0086p2-p851 | Syndromes: Mechanisms and Management P2 | ESPE2016

An Unusual Case of Growth Hormone Replacement Therapy in a Child with Hereditary Multiple Exostoses and Growth Hormone Deficiency

Xatzipsalti Maria , Polychroni Ioulia , Fryssira Elena , Stamoyannou Lela

Background: Hereditary multiple exostoses (HME) is an autosomal dominant heritable disorder characterized by exostoses located mainly in the long bones of extremities. HME is caused by mutations in two genes: EXT1, EXT2.Objective and hypotheses: Growth hormone (GH) deficiency is very rare in children with HME and GH replacement therapy has not been well described.Method: A 12.5 years old girl was referred to our Department because ...

hrp0095p2-107 | Fat, Metabolism and Obesity | ESPE2022

An Obese Patient with A Pathogenic PTEN Mutation. A Case Report

Vourdoumpa Aikaterini , Koutaki Diamanto , Paltoglou George , Fryssira Elena , Charmandari Evangelia , Bacopoulou Ioanna

Introduction: Germline mutations in Phosphatase and tensin homolog (PTEN) gene (chromosome 10q23) lead to PTEN Hamartoma Tumor Syndrome (PHTS), which includes Cowden syndrome. PTEN encodes a tumor suppressor protein that is a negative regulator of PI3K – Akt signaling pathway, taking part in multiple biological processes, including cellular cycle and regulation of metabolism.Materials and Methods:...