ESPE Abstracts

Objectives: Despite high prevalence rates of childhood obesity, youth-onset T2DM occurs in a comparably lower incidence in Europe than in other world regions. Available data from cohorts of obese children and adolescents living in the US suggest a parallel decline of insulin sensitivity and β-cell function as key factors in the pathophysiology of early-onset T2DM. If these results can be applied to European children and adolescents is currently unknown.</...

Introduction: Congenital leptin deficiency can be treated with the human leptin analogon metreleptin as first reported in 1999. To date, the long-term effects (> 1 year) of metreleptin treatment on anthropometry and comorbidities have only been described in 8 patients with leptin deficiency. Here, we present the long-term effects of metreleptin substitution on weight and comorbidities in a patient with bioinactive leptin.Metho...

The 5α-reductase deficiency type 2 is a rare autosomal recessive 46,XY disorder of sexual development (DSD), presenting with a wide clinical spectrum ranging from a male phenotype with hypospadias to a female phenotype with wolffian structures. Here we report about the clinical, hormonal and molecular characterization of two siblings with a mutation in the SRD5A2 gene, as well as the challenge of gender identity and the importance of psychosocial care. The older sibling ...

Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation anal...

Purpose: To track the effects of growth hormone on bone geometry and maturation in children with isolated growth hormone deficiency (GHD).Methods: 299 left hand X-rays from 77 short prepubertal children (54 boys and 23 girls) with isolated GHD were analysed for changes in metacarpal thickness, width, length, medullary diameter, the Bone Health Index (BHI) and bone age (BA) from one year preceding until four years after s...

Objectives: Impaired fasting glucose (IFG) is a risk factor for the development of type 2 diabetes in adults. In obese children and adolescents, IFG and impaired glucose tolerance constitute distinct prediabetic stages, which do not necessarily coexist. Pathophysiological mechanisms leading to IFG in children have not been fully elucidated. Available data from cohorts of obese adolescents living in the US suggest a concurrent worsening of insulin sensitivity a...

Duplications of the dosage sensitive sex locus Xp21.2 have been associated with 46,XY gonadal dysgenesis (GD) for nearly 25 years. In the past, duplications have always included the NR0B1 (nuclear receptor subfamily 0 group B, member 1, also known as DAX1) gene, a known antagonist of SF1 (Steroidogenic Factor 1) dependent SOX9 (SRY Box 9) activation and the GD was attributed to its "double gene dose". However, recent findings have questioned the neces...

Drugs can interfere with immunoassays causing false measurements. Trientine (triethylene tetramine dihydrochloride) is a chelator of copper and is used in the treatment of patients with Wilson's disease as alternative for penicillamine. Trientine mainly increases urinary copper excretion leading to a negative copper balance. Serum concentrations of trientine reached under treatment are not known. This is the first report of an interference of trientine with two chemilumine...

X-linked hypophosphatemia (XLH) is diagnosed in children with clinical and or radiological signs of rickets, impaired growth velocity, low serum phosphate levels associated with renal phosphate wasting, in the absence of vitamin D or calcium deficiency. Conventional treatment is made of phosphate and active vitamin D. However, nephrocalcinosis has been identified as a complication of this therapy. Its prevalence is about 25-40% in adult XLH treated patients. It was never c...

Background: The incidence of ES in children varies greatly depending on the population surveyed, ranging from 1.2%-9% to 68% (children without and with known endocrinopathies, respectively). MRI is the main diagnostic tool for screening pituitary and in a previous KIGS study, 3.0% of patients with GHD were identified with ES and 7.8% with pituitary hypoplasia (Maghnie et al, EJE (2013).Aim: T...