ESPE Abstracts

Introduction & Aim: Adrenoleukodystrophy (ALD) stems from ABCD1 gene mutations, affecting very long-chain fatty acid (VLCFA) metabolism, leading to VLCFA accumulation in tissues. The variable clinical spectrum of ALD underscores the need for early detection to optimize management with pre-emptive treatments. Hematopoietic stem cell transplantation (HSCT) offers curative potential, while symptom management aims to slow progression. We present cases...

Introduction: Pituitary adenomas, while rare in the pediatric population, pose significant challenges in terms of diagnosis and treatment despite their generally benign nature. The aimof this study was to elucidate the clinical features, hormonal profiles, and therapeutic interventions employed in the management of prolactinoma in a pediatric cohort.Methods: This study included children <18 years diagnosed with prolac...

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

Introduction: Graves’ disease (GD) is the most common cause of the hyperthyroidism in children and adolescents. Patients may present with norological, ophtalmological, cardiovascular and psychiatric symptoms. The aim of this study is to present the sociodemographic data (age, gender, etc.), clinical findings, quality of life and psychiatric symptoms of the children diagnosed with Graves’ disease and compare these data with the control group matched...

Introduction: Central precocious puberty (CPP) occurs as a result of early activation of the hypothalamic-pituitary-gonadal axis. CPP. In recent years, especially after the COVID pandemic, presentations with signs of precocious puberty and cases requiring treatment have increased all over the world. Recent studies have showed that CPP patients are more likely to have social and psychiatric problems than their peers of the same age and gender. The aimof our stu...

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contac...

Objective: Congenital isolated ACTH deficiency (IAD) is a rare autosomal recessive disorder that is characterised by low levels of plasma ACTH and cortisol with normal pituitary structure and hormones. Clinical presentation can occur in the neonatal period, as well as later in childhood. Here, we report a patient with IAD due to a novel TPIT mutation.Case: A 48/12 years old girl presented with loss of concioussness and found to be hypoglycemic...

Objectives: Proopiomelanocortin (POMC) is the polypeptide precursor of several peptides including adrenocorticotropic hormone (ACTH), melanocyte stimulating hormone (MSH) and β-endorphin. POMC deficiency is a very rare disease characterized by adrenal insufficiency, early-onset obesity, and pigmentation abnormalities. Here we describe an 18 month old boy with central adrenal insufficiency, hypothyroidism, obesity and fair skin. Genetic analysis revealed a homozygous p.G99...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is commonly used for evaluating the adequacy of hypothalamo-pituitary-adrenal axis functions. However, there is still no standardization between protocols used in different centres.Objective: To contribute to the optimal time of highest cortisol response in the LDST in children.Design: A prospective study of L...

Background: DNAJC3 is an endoplasmic reticulum (ER) co-chaperone involved in folding/processing of secretory and transmembrane proteins. The defect in the ER co-chaperone proteins impairs adaptive ER responses and leads to apoptosis, impairment of organ function with multisystemic involvement. Biallelic mutations in the DNAJC3, described in a limited number of cases cause multiple endocrine dysfunction and neurodegeneration of nervous system.<p cl...