ESPE Abstracts

Background: Premature adrenarche (PA) has been linked with early pubertal development, but only few longitudinal studies on PA girls and boys born appropriate for gestational age (AGA) have been reported.Objective: Our objective was to study growth and pubertal development in PA children, and to explore which factors in prepuberty predict early menarche in girls.Methods: PA (n=43, 36 girls) and control children (n...

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was est...

Background: A Europe-wide training program in Paediatric Endocrinology and Diabetes (PED) was initiated by Professor Leo Van den Brande in 1976. PED was recognised as a subspecialty in 1996 by the European Board of Paediatrics (EBP), which is a section of the Union of European Medical Specialists (UEMS). UEMS aims to ensure high standards for training across Europe and the minimum requirements are set out in the European Training Requirements (ETR). The first ...

Background: The social consequences of COVID-19 pandemic are universally known. In particular, the pediatric population is dealing with a radical lifestyle change. For some risk categories, such as overweight and obese children, the impact of home confinement has been greater than for others. Not only have the increased sedentary life, the wrong diet and social distancing stopped the chance of losing weight, but also worsened the general life conditions.<p...

Patients who suffer from congenital hypopituitarism display a wide spectrum of phenotypes including pituitary hormone deficiencies and, in some cases, additional extrapituitary manifestations depending on the causative gene. A group of genes underlying hypopituitarism has been identified, yet several of them remain unknown. Here, we identified compound heterozygous variants in the TBC1D32 gene, c.1165_1166dupGT, p.(Gln390Phefs*32) and c.2151delA, p.(Lys717Asnfs*29) in...

Introduction: Diabetic ketoacidosis (DKA) is a potentially fatal hyperglycemic emergency primarily associated with type 1 diabetes mellitus (T1D). The association between DKA and severe hypertriglyceridemia has already been previously discussed with a prevalence ranging between 7.1%-25%, with pancreatitis present in the majority of cases. Epidemiological data in the pediatric age are scarce and not well established. Its etiology is not yet fully known. The &qu...

Introduction: The BSPED Peer review programme was initiated in 2011 to provide a regular cycle of independent impartial professional assessment, against quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 We present here an evaluation of the outcomes from the first review cycle completed in 2017.Methods: We examined pre-review self-assessments (4–6 weeks before a site visit by the Peer Review team) and post-...

Introduction: The BSPED Peer review programme was developed to provide a regular cycle of independent impartial professional assessment, against agreed quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 The aim is to continuously promote best quality of care for children and young people with endocrine disorders requiring National Health Service treatment at a SPES. We present here an evaluation of the process during this first revie...

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...