ESPE Abstracts

Background: Brain-derived neurotrophic factor (BDNF) plays a role in the central regulation of energy balance and has been associated with body mass index (BMI).Objective: The aim of this study was to investigate potential differences in serum BDNF concentrations in adolescents by gender and BMI, as well as possible correlations of circulating BDNF with the adolescents’ characteristics of metabolic syndrome.Methods: Study part...

Background: Spexin is a novel hormone that may potentially impact food intake, weight regulation and body adiposity. Circulating spexin has been associated with obesity and insulin resistance indices in women.Objective: The aim of this study was to determine serum spexin concentrations in adolescent females with metabolic syndrome, with polycystic ovary syndrome (PCOS), with anorexia nervosa as well as in healthy controls, and explore possible relationsh...

Introduction: Paragangliomas are rare neuroendocrine neoplasms, that derive from the chromaffin cells of the neural crest. They originate from the extra-adrenal paraganglia and are divided into sympathetic and parasympathetic. They are classified into three different molecular clusters, depending on the underlying gene mutations, in any of at least 20 identified genes: cluster I Pseudo-hypoxia, cluster II Kinase signaling, cluster III Wnt signaling. Half of th...

Background: There has been in recent years a significant increase of incidence of obesity and Type 2 diabetes (T2D) in children and young people (CYP). Most therapeutics research for T2D has been done in adults. There is increasing concern of high risk patients that are very slow to respond to our standard approach, especially as youth with T2D have greater degree of insulin resistance, more rapid beta cell failure and prevalence of complications compared with...

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. Taking info account the latest advances in HR therapy, it now becomes of interest to better define the mutational and phenotypic spectra of disease.Objective and Hypotheses: The aim of this study was to clinically characterize and perform genetic analysis of 168 cases with HR.<p class="a...

Aim: Western Australia is a state with unique geography and population distribution having only a single tertiary paediatric hospital (Princess Margaret Hospital, PMH in Perth) managing the majority of children and adolescents with fractures in the Emergency Department (ED). Fracture incidence in 0–16 year olds is known to be high and varies between countries with boys having a 1.5 fold higher fracture incidence than girls. There are no specific data for Australia. The ai...

It is generally accepted that androgens produced by fetal Leydig cells (FLC) control proper masculinization of the male external genitalia. Here, we hypothesized that the human genital tubercle (GT) has potential to synthesize androgens independently of FLC at early pregnancy. We observed that human GT of both genders have capacity to synthesize steroids of the Δ4, Δ5 and alternative pathway of DHT synthesis including the androgen itself. The presence of steroids in ...

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. To date more than 10 genes are associated with HR, and a comprehensive molecular diagnosis in these disorders is technically difficult to perform.Objective and hypotheses: To assess the value of targeted next-generation sequencing (NGS) used for molecular analysis of candidate genes of HR.Method: 64 pa...

Background and Objectives: MCT8 deficiency is a debilitating, ultra-rare, X-linked disorder resulting from dysfunctional thyroid hormone (TH) transport. A lack of TH in the brain results in profound neurodevelopmental delay while a co-existing excess of TH in tissues outside the brain leads to symptoms of chronic thyrotoxicosis. Tiratricol is a naturally occurring metabolite of triiodothyronine (T3) that clinical trials have shown can restore normal TH signall...

Introduction: Gain-of-function mutations in the STAT-3-Gene are associated with multisystemic autoimmune disease. The spectrum of disorders described in this context is highly variable and includes lymphoproliferative disease and (poly-) autoimmune endocrinopathies.Case History: A three-year-old boy was admitted with acute liver failure of unknown cause, necessitating a liver transplant. His medical history included cong...