ESPE Abstracts

Background: Metformin is a well-known biguanide approved for treatment of Type2 Diabetes. Metformin is not considered as an anti-obesity drug despite its common off-label use. Currently, there are no data regarding the profile of metformin related gastrointestinal side effects (MRGSE) in obese adolescents.Aim: To identify the frequency and time course of MRGSE in obese adolescents and assess the presence of any associati...

Aim: Gonadotropin-releasing hormone analogues (GnRHa) are widely used in the treatment of idiopathic central precocious puberty (ICPP) cases due to premature maturation of the hypothalamus-pituitary-gonad axis. The effect of GnRHa therapy on body weight and fat distribution is controversial in the literature. We aimed to examine the anthropometric measurements and body composition analysis of the girls with ICPP and to investigate the effect of related factors...

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...

Introduction and Purpose: Patients with type 1 diabetes mellitus must be extremely concerned with what they eat and their insulin dose as part of their treatment. Therefore, the risk of eating disorders increases in this patient group. This study, it was aimed to determine the disordered eating behaviors of patients with Type 1 DM and to evaluate the results of the general demographic characteristics, diabetes care behaviors, and quality of life scale that whi...

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...

Introduct&idot;on: Thyroid cancers are rare malignancies in childhood and their incidence is between 1.5-3% among all childhood cancers. Papillary thyroid cancer (PTC) constitutes more than 90% of childhood thyroid cancers. Risk factors for thyroid cancer include; There are iodine deficiency, radiation exposure, radiotherapy to the head and neck region, and genetic predisposition. We will present an 8-year-old case who presented with a complaint of neck swelli...

Objective: Mixed gonadal dysgenesis (MGD) (45,X,46,XY mosaicism) is a rare chromosomal disorders of sexual development (DSD). In this article, single center data were evaluated.Material Method: From the files of ten patients followed up with the diagnosis of mixed gonadal dysgenesis, complaints and physical examination findings, laboratory tests, chromosome analysis, FISH results, ultrasound, laparoscopy, pathology repor...

Background: Both genetic and environmental factors serve as the trigger of Hashimoto's thyroiditis (HT), but the exact mechanisms are still not fully understood. Increased intestinal permeability was shown to be a constant and early feature of several autoimmune disorders. Although HT is the most common autoimmune disorder worldwide, the role of intestinal permeability in its pathogenesis had received little attention. Human zonulin modulates intracellular...

Background: CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome is a recently described autoinflammatory disease that manifests in early infancy with recurrent fever, violaceous swelling of the eyelids, purpuric skin lesions, hypochromic anemia and elevated acute phase reactants. It is autosomal recessively inherited and associated with partial lipodystrophy, growth retardation and hepatomegaly. PSMB8 (proteasome subu...

Background: 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of 46,XY sex reversal due to a defect in conversion of androstenedione to testosterone. It is autosomal recessively inherited and caused by mutations in 17HSD3.Objective and hypotheses: To define clinical and laboratory characteristics of 17β-HSD3 deficiency during neonatal period.Method: An 8-day-old newborn with female externa...