ESPE Abstracts

Keywords: diabetes, MODY, atypicalIntroduction: Type 1 Diabetes (T1D) is the most common cause of diabetes in childhood, but Type 2 Diabetes (T2D) and monogenic diabetes has attracted increasing attention recently. Cases with atypical diabetes may be challenging for diagnosis, treatment and follow-up management. The purpose of this study was to present the characteristics of atypical diabetes cases from a tertiary referr...

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...

Introduction: Prader-Willi Syndrome (PWS) is characterized by severe neonatal hypotonia and feeding difficulty with subsequent hyperphagia, hypogonadism, and short stature. PWS has a prevalence of 1 in 10,000-30,000. Obesity-related complications occur from early childhood onwards. Liraglutide is a glucagon-like peptide-1 (GLP-1) analog that reduces appetite and body weight and improves glycemic control. Scarcity of oxytocin-producing neurons in the hypothalam...

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

In children with XLH, high circulating levels of FGF23 cause hypophosphatemia with consequent rickets, skeletal deformities, and growth impairment. Conventional therapy consists of multiple daily doses of oral phosphate and active vitamin D (Pi/D). Burosumab is a fully human monoclonal antibody against FGF23 indicated for the treatment of XLH. In the active-control study CL301 (NCT02915705), 61 children with XLH (1–12 years old) were randomized (1:1) to receive subcutaneo...

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

In children with XLH, excess FGF23 causes hypophosphatemia with consequent rickets, skeletal deformities, and impaired growth and mobility. We previously reported that burosumab improved phosphate homeostasis and rickets in children with XLH. Here, we report final data from this Phase 2 Study CL201 (NCT02163577).Fifty-two children with XLH (5-12 years old, Tanner ≤ 2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) we...