ESPE Abstracts

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...

Objectives: X-linked hypophosphataemia (XLH) is a rare, hereditary phosphate-wasting disorder characterised by excessive activity of fibroblast growth factor 23. The International XLH Registry (NCT03193476) (initiated in August 2017, target 1,200 children and adults with XLH, running for 10 years) will provide information on the natural history of XLH and impact of treatment on patient outcomes. This report summarises baseline data from the first interim analy...

Background: Congenital hyperinsulinism (CHI) is a rare disorder, which causes persistent and severe hypoglycaemia in infants and children. CHI can be treated with glucagon, but long-term use is challenging owing to its instability in aqueous solution. Dasiglucagon, a stable glucagon analogue designed for long-term use as a subcutaneous continuous infusion, is in clinical development. Here, we present dasiglucagon safety results in participants treated for up t...

Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.Objective: To assess publis...

Introduction: Pediatric obesity is associated with an increased risk of serious long-term complications. Therapeutic failure is influenced by several factors, such as the high dropout rate. A retrospective study was conducted on a cohort of children and adolescents with essential obesity, in order to evalute (1)the average duration of a correct follow-up and the percentage of weight loss at the end of it, (2)the rate of drop-out, researching related factors.</...

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

Background: The BoneXpert method for automated determination of bone age from hand X-rays is based on machine learning, so it lends itself naturally to be improved by adding more training data and using better learning algorithms. Currently, version 2 is running in 145 hospitals across Europe, and a new version 3 is rolled out in 2019.Objective and Hypotheses: The aim was to validate version 3 against manual ratings in r...

Objectives: Pediatric obesity (PO) leads in adulthood to chronic high-risk pathologies, if not adequately identified and addressed. The anthropometric methods for evaluating PO have well-described limits. One of the most recently proposed indexes to better locate and evaluate PO is the neck circumference (NC). We have verified the relationship between NC, body mass index (BMI), waist circumference (WC) and some laboratory parameters, with the aim of defining t...

Background: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin - GH).Objective and hypotheses: To study secretion of somatostatin and insulin-like growth factor (IGF-1, IGFBP-3) in various forms of hereditary pathologie...

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...