ESPE Abstracts

Introduction and Aim: We conducted this correlation study to analyze the impact of iron overload and chelation therapy on metabolic outcomes in 30 β-Thalassemia Major (β-TDT) patients, divided into those with prediabetes (Group A, n = 15) and those maintaining normal glucose tolerance (Group B, n = 15) over 8 years of consistent iron chelation therapy (ICT).Results: A negative correlation betw...

Introduction: In β-Thalassemia major (β-TDT) the influence of consistent iron chelation therapy on prediabetes development remains uncertain.Objectives: To identify factors associated with prediabetes among β-TDT patients adhering to iron chelation therapy by comparing those who developed prediabetes versus those with normal glucose tolerance.Methods: This retrospect...

Case presentation: We report on an Irish boy who presented aged 8 years old with an 18 month history of gradual right-sided gynaecomastia, which was surgically excised with good cosmetic outcome. He subsequently re-presented with left-sided breast tenderness and budding and was then referred to endocrinology. On review, his height was greater than the 99th centile, weight was on the 75th centile and bone age was advanced by 2 years and 9 months. Tanner staging...

The cause of pseudo-hypoparathyroidism (PHP) is structural mutations or epigenetic modifications of the GNAS gene, which encodes the alpha subunit of the G protein.The aim: of the study is to compare the genotype of patients with GNAS mutation with their phenotype.Materials and Methods: 28 patients (16 F and 12 M) diagnosed with PHP were analyzed. Among them, 13 came from six unrelated Polish famil...

Background: Mitochondrial disorders resulting from single large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs) are a group of non-inherited congenital diseases that lead to three clinically overlapping syndromes: Pearson syndrome (PS), Kearns-Sayre syndrome (KSS), and chronic progressive external ophthalmoplegia (PEO). Although many reports have addressed endocrine abnormalities in patients with SLSMD, there hasn't been an in-depth study on these abno...

Introduction: Autoimmune endocrinopathies are associated with Down syndrome (DS), especially in pubertal female patients. Coexistence of hyperthyroidism and insulin-dependent diabetes mellitus (IDDM) is very rare in patients with DS. But, the possibility of their occurrence emphasizes the importance of annual screening.Patient and methods: An 11-year-old girl with Trisomy 21 (DS), BMI=20,7 kg/m2 and BMI z scor...

Thalassemia is a common genetic blood disease that is characterized by a decrease or absence of normal globin chain synthesis. This results in an imbalance of alpha and beta globin chain synthesis, leading to ineffective erythropoiesis and hemolysis, which causes anemia. The severe form of thalassemia is called thalassemia major and is usually associated with lifelong transfusion-dependent anemia. The incidence rate of thalassemia is higher in the Middle East, and it is a majo...

Introduction: Congenital disorders of glycosylation (CDG) are metabolic conditions resulting from defects in the glycosylation pathway. In addition to the primary neurological symptoms, other possible clinical findings may include distinctive coagulation abnormalities, as well as hepatic, gastrointestinal and, less frequently, hormonal disorders. The ALG1 gene defect is the third most prevalent CDG and compromises β-1,4 mannosyltransferase activity, which...

Introduction: Phosphatase and tensin homolog (PTEN) is a tumor suppressor gene involved in the PI3K/AKT/mTOR pathway. Mutations in the PTEN gene are known to cause PTEN Hamartoma Tumor Syndrome (PHTS), an autosomal dominant disorder. This syndrome is characterized by proliferative lesions in various tissues, including the thyroid gland, breast, gastrointestinal system, kidneys, and endometrium. We present a patient who initially presented with a breast mass an...

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome of unknown etiology, associated with high morbidity and mortality. The goal was to characterize endocrine symptoms of patients with ROHHAD syndrome treated in our centre in years 2009-2024. We identified and reviewed the charts of 4 patients with ROHHAD syndrome. The male to female ratio was 1:3. Definitive diagnosis of ROHHAD syndrome was made after alveolar...

Background: Hypoglycaemia is a common critical condition in paediatric emergencies, with diverse aetiologies including metabolic disorders and endocrine dysfunctions. Adrenal insufficiency is a life-threatening cause, that requires prompt diagnosis and intervention. This case study presents a rare incidence of hypoglycaemia secondary to adrenal failure in a paediatric patient with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder affecting multiple systems...

Introduction: Adrenal insufficiency is a rare, but potentially fatal medical condition, most frequently congenital in children. Rapid and accurate diagnosis is imperative for effective treatment. A growing number of causative gene mutations in overlapping clinical phenotypes and different syndromes which share adrenal insufficiency as one of the main characteristics were published recently.Case Presentation: An infant (b...

Introduction: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder first identified in 2013, characterized by features overlapping with Prader-Willi syndrome (PWS) but distinguished by unique symptoms, such as joint contractures and high rates of autism spectrum disorder (ASD). SYS is caused by pathogenic heterozygous variants in the paternally-derived MAGEL2 allele. We sought to describe a case series of three SYS patients, highlighting t...