ESPE Abstracts

Introduction: The retrospective/blind glucose monitoring (bCGM) system or glucose sensors commonly used for type 1 diabetes management. The approach to hyperglycemic and hypoglycemic states is an urgent and essential issue in terms of diagnosis/treatment. Many tests are performed for the diagnostic process. We aimed to evaluate the effectiveness of bCGM (iPro™2 system) in the follow-up and treatment of patients to our clinics with hypoglycemia/hyperglyce...

Introduction: Congenital multiple pituitary hormone deficiency (CMPHD) is a clinical condition that manifests in the early years of life. In most cases, pituitary stalk interruption syndrome (PSIS) can be detected by MR imaging. The current study presents a case with a novel candidate pathogenic gene Semaphorin 3A (SEMA3A) in CMPHD by whole-exome sequencing (WES).Materials and Methods: Genomic DNA was extracted from the ...

Introduction: Syndromic and monogenic obesities are rare and may have different treatment challenges and options. Patients with POMC, PCSK1, and LEPR mutations can receive setmelanotide therapy. Setmelanotide acts on the melanocortin 4 receptor. Here, as a participant in the Rare Obesity Advanced Diagnosis Project, the results of our patient data are presented.Method: Patients who became obese before the age of 5 and/or ...

Introduction: Central precocious puberty (CPP) is a condition characterized by early signs of sexual development. Mutations in the MKRN3 gene located on chromosome 15q11.2 are rare but are among the most common causes of familial precocious puberty. Early signs of puberty may occur due to the inability to produce this inhibitory protein normally or due to its malfunction resulting from mutations in the MKRN3 gene. Mutations in the MKRN3 gene follow autosomal d...

Introduction: Treatment adherence is crucial for the success of Growth Hormone (GH) therapy. Non-adherence rates have varied over a wide range from 5% to 80% in the literature. Several factors may have an impact on treatment adherence. Besides, with the COVID-19 pandemic that affected the whole world, there were problems with the hospital admission and routine controls of the patients who used GH treatment.Objective: The...

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...