ESPE Abstracts

Background: Children with different growth disorders need therapy with recombinant human GH. Although mostly therapy leads to good results there are clinical cases when the therapy is not working. One of the reasons is patient’s and patient’s family’s adherence. That’s why it is necessary to explore what are the adherence and its impact on therapy’s outcome. Growth disorders can make an influence to all humans’ life, that’s why if it is possi...

Background: The endocrine role of white adipose tissue (WAT), as a site of release of the so-called adipokines, has been recognized for long. Brown adipose tissue (BAT) is the main site of adaptive thermogenesis in mammals, especially relevant in neonates and early infancy. The amount and activity of BAT are associated with a healthy metabolic profile and protection against obesity, type II diabetes and hyperlipidemia. This biological role of BAT is traditionally attributed to...

Background: In contrast to hypoglycaemia due to congenital hyperinsulinism, there are patients with a similar metabolic profile of hypoketotic hypoglycaemia, but low insulin levels and relatively low glucose requirements to maintain euglycaemia. So far, four patients with activating mutations in the insulin signal-transducing kinase AKT2 have been described, each also showing a syndromic phenotype including hemihypertrophy.Objective and hypotheses: We pr...

Background: Drug intoxication is one of the rare reasons of hyperinsulinism; it may occur not only accidentally but also deliberately.Objective and hypotheses: Herein, we report a case who presented with factitious hyperinsulinaemic hypoglycemia and diagnosed with Münchausen syndrome by proxy (MSBP) which is an uncommon condition of child abuse.Method: A 7-year-old girl was referred to our department due to hyperglycemic and h...

Background: Neonatal diabetes mellitus (NDM) presents within 6months of life, is either permanent (PDM) or transient (TND). The incidence is 400 000/live births. Monogenic accounts for the majority of cases. We describe the case of what appears to be a familiar NDM with no current known cause.Case report: EM presented at 3 weeks old. She was born at term, IUGR (2.3 kg) with one day history of diarrhoea, vomiting and anorexia. There was no history of poly...

Background: Paediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-procedure protocols involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence and time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: age range less than 18 years old at the time of t...

Background: Evaluation of persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) requires accurate anatomic diagnosis for appropriate medical/surgical management. 18F-DOPA PET scan is used to localise the disease in pancreas, but is not available in many centres.Objective and hypotheses: We were highly restrained by the availability of investigations for evaluation of PHHI, especially 18F-DOPA. To localise the disease process,...

Background: Vaptans, vasopressin receptor 2 antagonist, are used in adults to treat hyponatremia associated with congestive heart failure, cirrhosis, and the syndrome of inappropriate antidiuretic hormone (SIADH). To date, in paediatric patients with SIADH there are few data about use of vaptans, still considered off-label.Case presentation 1: A 9-yo female with surgically treated suprasellar astrocitoma developed chronic hyponatremia (121–128 mmol/...

IMNEPD is a mitochondrial disease caused by homozygous mutations in the PTRH2 gene, a nuclear gene coding for a primary mitochondrial protein. IMNEPD was first described in 2014. So far only 3 other case reports have been published, reporting on a total of 15 patients. We report on two affected siblings of whom the girl developed an antibody negative diabetes at 13 years of age with typical symptoms (polyuria, polydipsia, weight loss of 1,5 kg), and without diabetic k...

Conventional treatment for obesity, founded on the First Law of Thermodynamics, assumes that all calories are alike, and that to lose weight one must ultimately “eat less and move more.” However, this prescription rarely succeeds over the long term. Calorie restriction elicits predictable biological responses – including increased hunger and reduced energy expenditure – that oppose ongoing weight loss. Indeed, the prevailing Energy Balance Model offers ...