ESPE Abstracts

We report the case of a female newborn, first child of healthy, non-consanguineous parents, born at 42+0 weeks of gestation, who was admitted 21 h after birth with severe hypoglycemia, hypothermia, decreased muscle tone, inspiratory stridor and edema. The course included poor feeding and failure to thrive, hyperbilirubinemia and cholestasis. Infectious or metabolic diseases were ruled out by clinical and laboratory investigations. Hormonal evaluation confirmed the diagnosis of...

Background: Microdeletions of the chromosomal region 2q31.1 are rare. Growth retardation is reported in the majority of these patients, but information about growth hormone status is not given in the literature. Other typical features in 2q31.1 deletion syndrome are developmental delay, limb abnormalities, short palpebral fissures, heart defects, among others.Objective and hypotheses: A 12 year old girl presented at the age of 7 years with severe growth ...

Background: Weight status in children is commonly defined using BMI (SDS), but this measure is problematic due to the skewness of the BMI distribution and its age-dependant increase. In addition, it is difficult for physicians or parents alike to grasp what a certain value means. Excess body weight (EBW) is frequently used in adult patients in the context of bariatric surgery.Objective and hypotheses: An appropriate definition for the paediatric populati...

The association between type 1 diabetes (T1D) and other autoimmune diseases is well known.The prevalence of celiac disease (CD) ranges from 1% to 10% among children and adolescents with T1D.The risk of associated CD is inversely and independently associated with age at diagnosis, with the greatest risk in those diagnosed with T1D before the age of 5 years. Classical symptoms of CD as poor growth, weight loss, gastrointestin...

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....

Background: Human milk is considered the most advantageous source of nourishment for infants. Although there is a growing body of evidence showing that human milk feeding fosters early neurodevelopment, the underlying process is still not completely known. Indeed, clinical and animal research has linked human milk to enhanced myelination in the infant's central nervous system, however, access to human oligodendrocytes and neurons in the early stages of develop...

Objective: Young women with Turner syndrome are known to be especially at risk for lost of follow-up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. To assess differences in transition readiness might be crucial for identifying special needs in specific patient cohorts when preparing for transfer to adult care. Our hypothesis was, that young women with Turner syndrome would score lowe...

Introduction: Adrenal insufficiency (AI) leads to a diminished production of steroid hormones. AI is subdivided into a primary and a secondary form. In primary AI, the underlying defect affects the adrenal gland itself resulting in a low steroid production and an overproduction of adrenocorticotropic hormone (ACTH). On the contrary, the cause of secondary AI lies in the pituitary, leading to a reduced production of ACTH and consecutively to a reduced excretion of corticosteroi...

Background: Central diabetes insipidus (CDI) is caused by deficiency of antidiuretic hormone (ADH). Patients with CDI are at risk for fluid balance disturbances, especially when there is impaired thirst perception or inability to access water freely. Serum sodium measurement gives a good reflection of the actual fluid balance but is generally not available in the home situation. For patients in which CDI is difficult to manage sodium measurement at home may be a good instrumen...

Background: The aim of this study was to examine plasma visfatin levels in pediatric patients with type 1 diabetes (T1D). Visfatin, a novel adipokine, is predominantly secreted by visceral adipose tissue and seems to have insulin-mimetic effects. It has not been studied in children and adolescents with type 1 diabetes (T1D) yet.Objectives: We studied 124 subjects; 62 patients with T1D: 31 girls, mean age 13.7±3.7 years; mean duration of diabetes 5.9...