ESPE Abstracts

Background: Variety of defective thyroid hormone biosynthesis accounts for 15% of congenital hypothyroidism. Children with IYD gene (formerly DEHALI) mutation, which encodes thyroidal enzyme iodotyrosine deiodinase, cannot recycle iodine in thyroid gland. This results in urinary loss of iodine and hypothyroidism. The condition may be missed by neonatal screening programs.Case description: A male baby was born of non-cons...

Background: Adverse changes in metabolic parameters and body composition are frequently reported among childhood cancer survivors treated with cranial or total body irradiation. Data regarding the occurrence of metabolic impairments among survivors following abdominal and pelvic radiation are lacking.Objective and hypotheses: To define the prevalence of metabolic impairments among survivors of paediatric abdominal and pelvic solid tumours and to assess t...

Background: Concern remains regarding the potential influence of growth hormone (GH) treatment on neoplasia because of the general growth-inducing effect of GH and associations between high serum IGF1 concentrations and certain cancers in adulthood. Many studies that evaluated risk for primary cancer in GH-treated patients without previous malignancy found no increased rates of primary neoplasia. A higher risk for colorectal cancer was observed in a single-country cohort treat...

Introduction: Paediatric adrenocortical tumors (ACT) include both benign adenomas and highly virulent malignant tumors. However, it is very rare among children. The aim of this study is to evaluate the clinicopathological data of children presented with ACT and to assess the survival.Methods: This is a retrospective cohort study which includes patients diagnosed with ACT from August 2020 to July 2021 and followed up at L...

Background: ROHHADNET syndrome affects children with normal development until 2–4 years of age.Objective and hypotheses: Aim of this study was to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not been identified. A paraneoplastic/autoimmune etiology has been suggested mainly because of the association with neural crest tumors....

Differences of sex development (DSD) occurs when the development of chromosomal sex, gonadal or internal/external genitalia is atypical. It has an incidence of 1: 1000-4500 live born children. New chromosomal array technologies (SNP-array) can analyze the genome of the individual providing information of copy number variation (CNV) of specific chromosomal regions helping to identified pathogenic variants that could explain the etiology of the DSD. This study aims to analyze th...

Background: Primary Ovarian Insufficiency (POI) and infertility are common concerns of female Childhood Cancer Survivors (CCS) and are known to impact their quality of life. Increased availability of fertility preservation techniques mandate a better understanding of risk factors for POI in this population.Objective and hypotheses: To describe the prevalence of and risk factors for POI in a cohort of adult CCS.Method: Cross-section...

Introduction: Nephroblastoma or Wilms tumor is the most common pediatric abdominal malignancy. Typically, it is found in children younger than 5 years old, girls being more likely to have Wilms tumor than boys. The etiology of the disease is genetic, due to alteration in the development of the genitourinary tract.[1] Treatment is represented by surgery (unilateral nephrectomy), chemo- and radio-therapy. Paraneoplastic endocrine disorders may occur, but there a...