ESPE Abstracts

Background: Since the 1980s, growth hormone (GH) treatment has been administered to children as daily subcutaneous (SC) injections. GH-treatment is extremely costly, and requires a high level of training and education, otherwise there is a risk of a poor response to treatment by the patient. This can lead to a waste of time and money for the family. The key to good adherence and successful treatment is patient understanding of the growth/metabolic problem and ...

Background: The SGLT2 (Sodium-Glucose Cotransporter 2) protein is responsible for the majority of glucose reabsorption in the proximal tubule. Mutations in SLC5A2, encoding SGLT2, have been first described in 2002, leading to familial renal glucosuria (FRG). Herein we describe the clinical course of an 11-year-old boy in whom a compound heterozygous SLC5A2-mutation was detected, who presented with glucosuria and vomiting with a suspected diagnosis of diabetes....

Context: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Severe forms of CHI, caused by autosomal recessive variants in KATP channel subunit genes (ABCC8, KCNJ11), are more prevalent in regions with high consanguinity. These regions also have a high neonatal mortality rate with many deaths remaining unexplained.Patients and Methods: We analyze...

Introduction: The main type of diabetes seen in pediatric clinical practice is type 1 diabetes. Monogenic diabetes and syndromic diabetes are rare, but can be more common in areas where consanguinity is high.A 12-year-old girl born to consanguineous parents who are first cousins, was referred after being diagnosed with diabetes and severe diabetic ketoacidosis. In addition, she had hypertrichosis, coarse facial features, acanthosis nigri...

Backgroud: Allogeneic haematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and non-malignant disorders. With improved outcomes, increasing attention has been drawn to late complications in long-term survivors. Secondary cancer belongs to the most serious complications.Objective: Occurrence of secondary solid tumours at HSCT Unit, University Hospital Prague- Motol was analysed....

Background: Increasing number of survivors following hematopoietic stem cell transplantation (HSCT) leads to necessity to focus also on careful monitoring for late effects. High dose chemotherapy and total body irradiation (TBI) is used for conditioning regimen in many patients. Thyreopathies belong to the most frequent among late endocrinopathies.Objective: Aim of the study was to evaluate incidence of secondary thyroid malignancies after HSCT in young ...

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers, and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children w...

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children wi...

Background: Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8–11 (catalytic site).Case presentation: Girl, born at term (s.c) picked up by TSH screening and start of LT4 treatment at d14 with 14 μg/kg per day (table 1), clinical signs: no goiter, hypotonia, dry skin, posterior fontanel >5 mm, ...

Background: SGA-SS, defined as birth weight and/or birth length below -2SD for gestational age and postnatal statural height below -2.5SD according to age- and sex-specific standards, is a heterogeneous condition reflexing exogenous (maternal, placental) or endogenous (foetal) inadequacies. Within the past two decades, a handful of genetic causes of SGA-SS have been elucidated. However, how each genetic aetiology impacts individual GH treatment outcomes awaits...