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: Reduction in glycemic variability and HbA1c levels are achieved by the use of continuous glucose measurement systems (CGM) in the patient with Type 1 diabetes mellitus (T1DM). Intermittently viewed CGM (iCGM) using flash technology have been used increasingly by diabetics and their families because of practicality. Evaluating of ambulatory glucose profiles (AGP) is very important in the management of T1DM.Aim and Me...

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 ...

Background: Turner syndrome has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma. Our case is a mosaic Turner syndrome patient with gonadoblastoma.Case Summary: A 14-year-old girl was admitted to the ...

The monocarboxylate transporter 8 (MCT8) is essential for transporting thyroid hormones to the brain. MCT8 deficiency occurs in SLC16A2 gene variants; patients usually present with neurological symptoms and are diagnosed with cerebral palsy or central hypothyroidism. Recently, 3,3',5-triiodothyroacetic acid (Triac) is used in treatment. This study aimed to evaluate the diagnosis and follow-up processes of five MCT8 deficiency patients. Five patients with variants in the S...

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...