hrp0097p2-184 | Diabetes and Insulin | ESPE2023

An Obese HNF1β Case Presenting with Diabetic Ketoacidosis

Kahveci Ahmet , Kaplan Gunay , Arslan Ateş Esra , Bilge Geckinli Bilgen , Guran Tulay , Turan Serap , Bereket Abdullah , Haliloglu Belma

Background: Hepatocyte nuclear factor 1β (HNF1β) is a critical transcription factor that regulates the development of the kidneys, pancreas, liver and genital tract. Patients with deletions and mutations in the HNF1 β gene present with renal and extrarenal manifestations. The most important extrarenal finding is diabetes, also known as MODY5. Although it is generally diagnosed with hyperglycemia, diabetic ketoacidosis is rarely seen.<p class...

hrp0097p1-530 | Multisystem Endocrine Disorders | ESPE2023

Anthropometric, clinical, and molecular genetic characteristics of 42 patients with RASopathies

Yavas Abali Zehra , Bilge Geckinli Bilgen , Eltan Mehmet , Kahveci Ahmet , Gurpinar Tosun Busra , Helvacioglu Didem , Guran Tulay , Bereket Abdullah , Turan Serap

Background: RASopathies are a group of diseases with common clinical features that occur as a result of pathogenic variants in genes encoding components of the RAS/MAPK pathway. The aim of this study was to evaluate the clinical and molecular features of RASopathy cases in our pediatric endocrinology unit.Subjects and Methods: The clinical and molecular data of 42 patients (18 girls) from 39 families were evaluated, retr...