ESPE Abstracts

Background: The GnRH-agonists are the drugs of choice for therapy of idiopathic-CPP. To assess two different GnRH-agonist (Leuprolide acetate: LA vs Triptorelin depot: TD) treatment effects on anthropometric measurements.Patients and methods: 74 girls with ICPP (mean age 33.8±8 years) were enrolled the study. Complaints had been begun before 8 years old. 50 girls underwent GnRH stimulation test. 58 girls with ICPP were followed up 18 months. Childre...

Objectives: We aimed to evaluate the performance of waist circumference triglyceride index(WTI) to predict non-alcoholic fatty liver disease(NAFLD) in obese children.Methods: In this study 139 obese children(71 girls) were included(6-18 years). Height, weight, body mass index(BMI), waist circumference(WC), puberty stage, blood pressure, and biochemical values were obtained from the medical records. SDS and percentiles we...

Endochondral bone formation regulates bone growth both during embryonic development and after birth. Several different autocrine/paracrine or hormonal mechanisms govern the regulation of endochondral bone formation. Among those is the pathway involving stimulatory G protein, which primarily mediates the actions of parathyroid hormone-related peptide (PTHrP) in the growth plate. PTHrP is synthesized in the perichondrial cells and chondrocytes at the end of bones. In the growing...

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...

Introduction: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of age. It is a rare condition occurring in only one in 100 000–300 000 live births. Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM). TNDM is most frequently caused by abnormalities in the imprinted region of chromosome 6q24.Case Report: A 18-day-old male was referred from another clinic due to diabetic ketoaci...

Background: B-Lymphocyte kinase gene (BLK) gene acts on insulin synthesis and secretion, and mapped locus on chromosome 8p23. Monogenic diabetes due to BLK gene mutation is very rare and it’s named as MODY11. We aimed to present differences in clinical, laboratory and treatment of the patients with BLK mutations.Methods: OGTT performed in six patients. A panel of 23 MODY genes was screened. Patients with BLK</e...

Introduction: HLA-G gene is involved in the control of immune response. It plays a primary role on immune tolerance and may participate in controlling autoimmune responses serving as a potential independent susceptibility marker. HLA-G has been isolated in some secretory granules and on the cell surface of primary islet cells induced to secrete insulin. Subsequently, it could be hypothesized that HLA-G methylation at pancreatic islet could sustain T cell activation and onset o...

Background: The concurrence of transverse testicular ectopia (TTE) with persistent müllerian duct syndrome (PMDS) is extremely rare. Here, we report a case of TTE with PMDS in a 7-month-old male infant presenting with inguinal hernia and a novel homozygous mutation in the AMH gene. CASE REPORT: A 7-month-old male infant presented to pediatric surgery department with an inguinal hernia on the left side and bilateral undescended testis. During left herniotomy, tiss...