ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH s...

Background: Early TS diagnosis permits early GH start and estradiol (E2) supplementation approaching adult height (AH) at normal age and within a normal range. However, higher age at diagnosis is still a challenge.Objective and hypotheses: The hypothesis from our long-term trials will result in knowledge for personalized treatment in order to obtain a psychological acceptable age at onset of puberty and still an attained AH within normal range...

Background: Obesity is a potential late-effect of therapies for childhood cancer. Reported prevalence rates of obesity in childhood cancer survivors are heterogenous and currently unavailable for children treated according to protocols of the German Society for Paediatric Oncology. Furthermore, risk factors for the development of obesity following childhood cancer remain largely unknown.Methods: From a cohort of n=149 patients followed in a late...

Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.Method: Blood samples were taken in girls of th...

Background: The hyperosmolar hyperglycaemic state (HHS) is rare, but recognised, life-threatening clinical entity in children with type 2 diabetes (T2DM). It is also reported as presenting feature in other types of diabetes and metabolic disorders. The estimated mortality in HHS is 10–20%, ten times higher than Diabetic Ketoacidosis (DKA).The mainstay of management involves aggressive fluid therapy with insulin and managing complications namely; rhabdomyolysis, multi-orga...

Introduction: The prevalence of childhood obesity is continuing to increase worldwide and has become a major health concern. There are a number of serious complications to childhood obesity with significant long-term health implications if not managed in a timely matter. These complications include type 2 diabetes mellitus (T2DM), obstructive sleep apnoea (OSA), idiopathic intracranial hypertension (IIH) and non-alcoholic fatty liver disease (NAFLD). At presen...

Background: Hypoglycaemic episodes in patients with Congenital Hyperinsulinism (CHI) are not always detected due to the intermittent measurement of blood glucose concentrations, particularly the asymptomatic episodes. Detecting and treating these episodes is important for prevention of hypoglycaemic brain injury. Although the Continuous Glucose Monitoring System (CGMS) is widely used in adults and children with diabetes, the use in patients with CHI remains li...

Objectives: Achondroplasia (ACH) is a rare, genetic skeletal dysplasia, resulting in impaired endochondral bone growth and leading to multisystem complications. We aimed to estimate rates of non-skeletal complications in ACH patients compared with general population controls.Methods: Retrospective cohort study using UK Clinical-Practice-Research-Datalink (CPRD-GOLD), identifying an ACH cohort. Study index date was define...

Introduction: Childhood obesity is continuing to increase worldwide resulting in a rise in the number of individuals with complications secondary to obesity. Non-alcoholic fatty liver disease (NAFLD) is seen in both adult and paediatric populations and if not treated appropriately is potentially life-threatening, as it may progress to advanced fibrosis, cirrhosis or hepatocellular carcinoma. NAFLD has now become the most common indication for liver transplant ...

Background: Congenital hypopituitarism (CH), involving deficiencies in one or more anterior pituitary hormones, is rarely observed in combination with severe joint contractures, termed arthrogryposis. Schaaf-Yang syndrome (SHFYNG), which has phenotypic overlap with Prader-Willi syndrome, may be associated with arthrogryposis. L1 syndrome, a group of X-linked disorders including hydrocephalus and spasticity of the lower limbs, may also present with generalized contractures in r...