ESPE Abstracts

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

Introduction: Autoimmune polyglandular syndrome type 1 (OPS1) is characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenalitis. The mutations in the localized autoimmune regulator gene (AIRE) at 21q22.3 present the etiological cause.Objective: In this case report, two siblings case who were diagnosed with OPS1 with different clinical findings except classic triad were presente...

Introduction: Insulin (INS) gene is reported to be the most important gene involved in Type 1 Diabetes (T1D); its expression is inversely correlated with methylation at CpG sites. Hypermethylated primers are associated with decreased expression.Aim: The present study aims to investigate possible differences in DNA methylation pattern between T1D youngsters and healthy controls.Patients and Methods: Twenty T1D parti...

Introduction: Autoimmune thyroid diseases (ATD) are the most common autoimmune disorders associated with type 1 diabetes (T1D). Most patients present hypothyroidism. Although hyperthyroidism is less frequent, severe forms of thyrotoxicosis coexisting with diabetic ketoacidosis (DK) have been described in children with either preexisting diabetes, thyroid disease, or both. Celiac disease (CD) incidence is higher and ranges from 0.6-16.4%....

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...

The aim of the study is to assess the effect of juvenile idiopathic arthritis (JIA) and biologic disease-modifying anti-rheumatic drugs (bDMARD) on ovarian reserve in children. A cross-sectional study was performed from March 2021 to March 2022 and included 81 patients with JIA and 49 healthy children. Serum anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol levels were analyzed using electrochemiluminescence methods....

Introduction: Transient hyperinsulinism is described in neonates with stress factors (intrauterine growth restriction (IUGR), large for gestational age (LGA), perinatal asphyxia, infants of diabetic mother etc.). Recognition and early treatment is prioritary to avoid neurological morbidity related with recurrent hypoglycemia.Objective: Describe the incidence of transient hyperinsulinism. Clinical charac...

Introduction: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme deficiency is a rare cause of 46 XY disorder of sexual development. It is inherited autosomal recessively and clinical phenotype is highly heterogeneous and depends on the mutation severity. Conversion of androstenedione to testosterone deteriorates due to lack of enzyme.Objective: In this case report, we present a case who was born en...

Objective: Endocrine disorders following acute lymphoblastic leukemia (ALL) treatment are notable in high-risk groups and those receiving high-dose chemotherapy due to bone marrow transplantation (BMT) or relapse. This study investigates endocrine effects after ALL treatment.Methods: The study included cases diagnosed with ALL during childhood between 1995 and 2020, treated with the BFM-1995 protocol, and followed for at...