ESPE Abstracts

Introduction: Continuous Glucose Monitoring System (CGMS) takes place increasingly in the daily routines of diabetic patients. It has been shown that metabolic control improves when CGMS is used consistently. We aimed to show the effect of CGMS in patients using MDI therapyMaterials - Methods: All patients using multiple-dose insulin therapy at our center and continued their regular follow-up and using CGMS for at least three months were...

"Steroidogenic Factor-1" (SF-1); It is encoded by the NR5A1 gene in 9q 33.3 and regulates the transcription of genes involved in steroidogenesis. It is reported that 46 of the variants in this gene constitute 10-20% of XY sex development disorders (DSD). The patient admitted because of a swelling in the left groin at one month old. She was raised as female. Uterus was 12x2.5 mm in ultrasonography and the gonad in the inguinal region was evaluated as testis. She was P...

Introduction: Idiopathic short stature(ISS) refers to children who are short because there is no identifiable defect in the growth hormone (GH)/insulin-like growth factor(IGF) axis and no other endocrine or genetic disorders. The genetic etiology of ISS in children was investigated in this study using targeted next-generation sequencing(NGS).Method: Eighty patients with short stature of unknown etiology were included in ...

Introduction: Childhood obesity has been associated with many physical and mental health problems.A significant relationship has been reported between psychiatric disorders, especially attention deficit hyperactivity disorder(ADHD) in obese patients due to the melanocortin 4 receptor(MC4R) gene variant, and it has been claimed that these two conditions may share common molecular pathways. However, studies on this subject are quite insufficient.<p class="ab...

Introduction: CAH is a common clinical condition with treatment and follow-up challenges. As a result, the adult height of the cases is known to be affected. We aimed to assess the growth and pubertal development of CAH patients and the factors that influence final height.Method: Between 1980-2022, 41 patients diagnosed with CAH were observed at our clinic. Only cases that attained the final height were retrospectively a...

Keywords: Syndromic Obesity, Child, GeneticsObjective: Syndromic obesity is accompanied by dysmorphic findings, motor and mental retardation, and organ anomalies. In this study, we aimed to evaluate the patients who were followed up with a diagnosis of syndromic obesity in our clinic.Materials and Methods: Demographic, clinical, and biochemical data of the patients followed up betwee...

Keywords: Non-syndromic obesity, single gene disorder, child.Objective: This study aimed to evaluate the clinical characteristics, molecular genetic analysis results, and obesity-related comorbidities of patients with non-syndromic monogenic obesityMaterials and Methods: The results of a targeted next-generation sequence analysis panel (Clinical Exome Solution v2 - SOPHiA GENETICS)...

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...

Introduction: In cases of disorder of sex development (DSD), the change between the gender assigned at birth and the individual's chosen gender identity can occur especially after puberty.Aim: was to determine the relationship between genetic sex, gender assigned at birth and gender identity, and the importance of molecular diagnosis.Method:154patients older than 14years of ag...