ESPE Abstracts

Background: Hyperinsulinism (HI) due to excess and dysregulated insulin secretion is the most common cause of severe and recurrent hypoglycaemia in childhood. High cerebral glucose utilisation in the early hours results in high risk of hypoglycaemia for people with diabetes and carries a significant risk of brain injury. Prevention of hypoglycaemia is the cornerstone of management for HI but the risk of hypoglycaemia at night or indeed the timing of hypoglycae...

Recently, pathogenic biallelic variants in the gene encoding DNA polymerase epsilon catalytic subunit 1 (POLE1), have been described in 15 individuals from 12 families, including members of 3 Irish families. These loss-of-function mutations cause POLε deficiency, thus impairing DNA replication. All reported cases share the same heterozygous intronic variant (c.1686þ32C>G) as part of a common haplotype, in addition to a different loss-of-function variant in the ot...

Gender dysphoria indicates a psychological distress due to any incongruence between biological sex and gender identity, while transgender identity refers to an individual, whose gender identity is the opposite of the biological sex. The number of gender dysphoric youth seeking hormonal care seems to rise worldwide. Therefore, numerous bioethical and medical controversies are raising about possible side effects of hormonal therapies, including interference with brain developmen...

Background: The peptide hormone adrenocorticotropin (ACTH or Corticotropin) is a major component of the stress response system in the Hypothalamus-Pituitary-Adrenal (HPA) axis. Under stress, it is secreted from the anterior pituitary and stimulates cortisol production from the adrenal cortex. Changes in ACTH production or action are associated with multiple disease conditions. In clinical situations like Cushing's disease, ectopic ACTH syndrome and congeni...

Background: Virilization at puberty in girls remains a challenge. Several differential diagnoses must be considered including disorders of sex development (DSD) and tumors.Case Report: We report an 11.5-year-old girl who was referred to our center for progressive cliteromegaly since 6 months. Past medical history was remarkable for prematurity of 36 weeks gestation and for mild ongoing psychomotor delay. At presentation ...

Background: At present, treatment of „classic" congenital adrenal hyperplasia (21-hydroxylase-deficiency, 21OHD) consists of glucocorticoid and mineralocorticoid replacement. However, often androgen excess and its negative metabolic impact are difficult to control without accepting glucocorticoid overtreatment, especially in adolescence. In healthy subjects oral contraceptives (containing ethinylestradiol) increase cortisol binding capacity and free c...

Background: The adrenocorticotropic hormone (ACTH) is a 39 amino acid polypeptide secreted by the anterior pituitary and regulates cortisol secretion from the adrenal cortex. Cortisol has negative feedback and regulates the synthesis and secretion of the ACTH. Excess ACTH is associated with a wide range of diseases including congenital adrenal hyperplasia (CAH). Classic CAH due to the 21-hydroxylase (CYP21A2) deficiency causes a reduction or loss of cortisol synthesis. Here th...

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...

Objectives: Deficiency of the short stature homeobox-containing (SHOX) gene is a potential etiology of short stature in children. The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the SHOX-gene and inherited in a pseudo-autosomal dominant manner, is highly variable, even within the same family, ranging from nonspecific short stature to Leri-Weill dyschondrosteosis (LWD). Short stature, mesomelia and Madelung deformity define the classic clin...

Introduction: Beta-thalassaemia is caused by point mutations leading to decreased production of beta-globin, which results in defective red blood cells and ineffective erythropoiesis. Complications are microcytic hypochromic anaemia, extramedullary haematopoiesis and increased intestinal iron absorption due to compensation mechanisms. The resulting iron overload can be aggravated by recurrent blood transfusions necessary for treatment of anaemia and may cause several endocrine...