hrp0095p1-455 | Diabetes and Insulin | ESPE2022

An Adolescent with HNF1B Deletion. A Case Report

Vourdoumpa Aikaterini , Koutaki Diamanto , Vasilakis Ioannis-Anargyros , Bacopoulou Ioanna , Sertedaki Amalia , Charmandari Evangelia , Paltoglou George

Introduction: Mutations in hepatocyte nuclear factor 1Β (HNF1B) gene (chromosome 17q12), lead to monogenic diabetes (HNF1B-MODY or MODY5, OMIM 137920) accompanied by multisystem disorders. HNF1B gene encodes HNF1B protein, a member of the homeodomain-containing superfamily of transcription factors, expressed early in embryogenesis, contributing significantly to organogenesis and the function of many systems (kidneys, liver, panc...

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:...

hrp0095p2-122 | Fat, Metabolism and Obesity | ESPE2022

Pediatric Endocrine evaluation of Marfan syndrome: A case report

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

Background: Endocrine disorders associated with tall stature in childhood are frequently evaluated by Pediatric Endocrinologists. The most common non-endocrine genetic cause of tall stature, Marfan syndrome, is a rare autosomal dominant genetic condition of the connective tissue, which presents with specific dysmorphic features, including thin physique, long extremities and normal growth rate. Little is known regarding the association of Marfan syndrome with o...