ESPE Abstracts

Background: Recently, a new monogenic cause of multiple immune system disorders and short stature has been attributed to germline activating mutations in the STAT3 gene encoding signal transducer and activator of transcription 3. Possible pathophysiological mechanisms include enhanced proliferation and activation of T-helper 17 cells and inhibition of regulatory T-cells by STAT3, as described in in vitro studies.Case presentation: The a...

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

Background: Prader–Willi syndrome (PWS) is characterized by a switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in early childhood. An elevated, more unfavorable ratio between acylated:unacylated ghrelin (AG:UAG) may be involved in the underlying mechanisms of this switch.Objective and hypotheses: To assess the evolution of the appetite regulating hormones AG, UAG, and the AG:UAG ratio in infants with PWS a...

Background: Asymmetric dimethylarginine (ADMA) is an endogenous competitive inhibitor of endothelial nitric oxide synthase (NOS), which prevents synthesis of nitric oxide (NO). Low levels of NO are associated with endothelial dysfunction and an increased risk of cardiovascular disease. Diseases associated with high levels of ADMA include metabolic syndrome, chronic kidney disease, diabetes mellitus, insulin resistance, hyperthyroidism and multiple organ failure. Notable, GH tr...

Introduction: Statural growth is regulated by multiple genetic, epigenetic and environmental mechanisms. The GH-IGF-1 axis was long believed to be the main linear growth regulator in children until more recent studies showed that the complex regulation of growth plate chondrocytes play an equal role. In order to extend our knowledge about the genes involved in short stature, we studied a unique cohort of children with short stature from consanguineous families...

Introduction: Maturity-Onset Diabetes of the Young (MODY) represents the most frequent form of monogenic diabetes. Genetic testing of Czech patients with clinical suspicion on MODY began 22 years ago. Aim of the study was to describe the prevalence of MODY subtypes among referred probands with diabetes and to define their clinical characteristics and possible differences.Methods: Clinical criteria for genetic testing of ...

Introduction: Linear growth is a complex process involving the interplay of genetic, epigenetic, and environmental factors. Current knowledge sheds importance to the GH-IGF-1 axis, chondrocyte regulation and extra-cellular matrix in the growth plate, and other fundamental intracellular processes. Despite these advancements, the genetics of short stature are not fully understood. This study aims to contribute by investigating a unique cohort of children from co...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Background: The majority of children diagnosed with idiopathic isolated growth hormone deficiency (IIGHD) show a normal growth hormone (GH) secretion (assessed by GH stimulation tests) when retested at near adult height (NAH). It appears plausible that if normal stimulated GH secretion is observed in mid-puberty, continuing recombinant human GH (rhGH) treatment may only have a minor effect on NAH. The effect on NAH has never been investigated in a prospective ...

Introduction: Monogenic diabetes has been estimated to be 1 - 6% of all diabetic cases in European countries which are primarily non consanguineous populations, while the incidence in highly consanguineous areas is insufficiently defined. However, the genetic aetiology of monogenic diabetes has been shown to be widely different in areas with prevalent consanguinity compared to areas with lower rates. In this single-centre study, we aimed to evaluate the preval...