ESPE Abstracts

Introduction: Pediatric adrenocortical tumors (pACT), comprising highly malignant pediatric adrenocortical carcinomas (pACCs) and less aggressive adenomas (pACAs), present a rare yet clinically significant challenge. pACTs often pose a diagnostic and therapeutic dilemma due to their elusive differentiation and resistance to therapy. Originating from the adrenal cortex, pACTs are functional and, thus, characterized by a unique urinary steroid metabolome. This s...

Background: Microdeletions of the chromosomal region 2q31.1 are rare. Growth retardation is reported in the majority of these patients, but information about growth hormone status is not given in the literature. Other typical features in 2q31.1 deletion syndrome are developmental delay, limb abnormalities, short palpebral fissures, heart defects, among others.Objective and hypotheses: A 12 year old girl presented at the age of 7 years with severe growth ...

Introduction: Diazoxide is the first-line drug for Hyperinsulinemia-Hyperammonemia (HI/HA) syndrome, a disease due to a mutation in the glutamate dehydrogenase-1 (GLUD1) gene.Diazoxide, an opener of the pancreatic β-cells KATP-channels reducing insulin release, is uncommonly associated with thrombocytopaenia.Aim: We describe a toddler with HI/HA syndrome who developed thrombocytopaenia on diazoxide treatment.<p ...

Introduction: Congenital hyperinsulinism(CHI) is a rare complex disorder of hypoglycaemia attributable to inappropriate and dysregulated insulin secretion from the pancreas with an incidence of 1:50 000(1:2500 in consanguineous populations). Genetics involves defects mainly in the KATP channel genes ABCC8 and KCNJ11.Aim: We describe a male infant, presented with refractory hypoglycaemia the first week of life.<p clas...

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

Background: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with severe malabsorptive diarrhea and certain endocrine abnormalities.Objective and hypotheses: To date, only 13 subjects with PC1/3 deficiency have been reported, now we want to report a new patient who was diagnosed PC1/3 deficiency with novel PCSK1 mut...

Background: Hashimoto’s thyroiditis (HT) is an autoimmune-mediated disorder, and is the most common cause of thyroid disease and acquired hypothyroidism in children and adolescents. In adults with HT, concentration problems, memory disorders and an increased rate of depression have been reported.Objective and hypotheses: To investigate, whether children and adolescents with HT have more behaviour and emotional problems, and/or lower intelligence tha...

Introduction: HNF1A-MODY (MODY3) is a common subtype of the Maturity Onset Diabetes of the Young (MODY), a monogenic autosomal dominant disease presenting as a nonketotic diabetes with onset usually during adolescence, or early adulthood. HNF1A-MODY is less common among children as the hyperglycaemia usually manifests after 10th year of life.Aim: We describe a young girl presented with hyperglycaemia and glysosuria.<...