ESPE Abstracts

Purpose: Multiple Endocrine Neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refer to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Methods and Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10–11 and 13–16. Genotyping with STR genetic markers ...

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...

Introduction: PGD is characterized by hyperthyroidism and antibodies against the TSH receptor (TSHRAB). Reported annual incidence is 4,58/100,000.Objective: To describe an Argentinean cohort with PGD followed between 2006 and 2020 at the Ricardo Gutierrez Children’s Hospital.Material and Methods: Retrospective study of 69 patients, who were treated initially with antithyroid ...

Background: Type 1 diabetes (T1D) is a chronic disease characterized by autoimmune destruction of pancreatic beta-cells. Dysregulated miRNA levels have been described in T1D patients, though results are inconclusive.Objective and Hypotheses: The aim of this study was to assess the circulating profile of different miRNAs in children at diagnosis of T1D.Method: 27 children with T1D o...

Background: Denosumab is a new class of antiresorptive medication and a fully human monoclonal antibody of the IgG2 immunoglobulin isotype to RANKL. In fact, it binds with high affinity and specificity to RANKL, mimicking the inhibitory effects of Osteoprotegerin, resulting in rapid suppression of bone resorption. Denosumab is commonly used also in pediatric age for treatment of osteoporosis, malignancies, and other benign bone lesions, such as fibrous dysplas...

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labeled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which...

Objective: To study structure disorders of sex development (DSD) 46,XY by one center.Subjects and Methods: It was included 60 patients with diagnosis DSD 46,XY at birth to 18 years. For all patients was conducted structural evaluation of the external (by External Masculinization Score, EMS, 0-12) and internal genitalia (by pelvic ultrasound, n=60, laparoscopy, n=20), hormonal research (testoster...

Acute lymphoblastic leukemia (ALL) is the most prevalent cancer in childhood. Over the past decades, survival rates increased, but relapse is still associated with a poor prognosis, especially if the bone marrow (BM) is affected. Marrow adipose tissue (MAT) constitutes a major part of the BM niche, but its impact on normal hematopoiesis versus leukemia initiation, progression and relapse has only recently gained attention. MAT is very sensitive to changes in the patient’s...