ESPE Abstracts

Objective: To report on a pediatric case series of massive insulin overdose, its altered pharmacokinetics and the patients favorable outcome.Cases and results: Case 1: 300 IU of insulin aspart were subcutaneously injected into a non-diabetic eight-year-old boy within an extended suicide. After 16 hours he was found unconscious with generalized convulsions. The initial blood glucose concentration was below detection limit. It normalized o...

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life.Objective and hypotheses: In a longitudinal study, we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome from birth until after puberty. We propose that differences in birth weight lead to differences in hormone levels with effects on personality and cognitive functi...

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life. The influence of intrauterine conditions on personality might be underestimated.Objective and hypotheses: In a longitudinal study we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome (ttts) from birth until puberty.Method: 23 pairs of monozyg...

Introduction: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. Impaired cognition has been reported in patients with CAH, although the findings have been conflicting. It has been hypothesized that the major causes of the deficits are prenatal hormonal imbalances and/or excessive glucocorticoid treatment.Objective: The objective of this study was to investigate cognitive function in chi...

Introduction: The CATCH 22 syndrome or DiGeorge syndrome or velocardiofacial syndrome, is a frequent pathology with the worldwide prevalence estimated between 1 / 2,000 and 1 / 4,000 live births. The classic clinic is characterized by typical facial features (narrow palpebral fissures, bulbous nasal tip, small mouth and ears, malar hypoplasia) with functional insufficiency of the soft palate in about 75% of those affected, difficulties in learning, language and behavior , cong...

Background: Patients with Prader-Willi-Syndrome (PWS) seem to be a risk-group for COVID-19 infection, due to their syndrome associated clinical features of hyperphagia and obesity, risk for central hypoventilation and obstructive sleep apnoea. Yet, little is known about the severity of infections and the long-term consequences in these patients. Therefore, we studied auxologic parameters and sleep laboratory examinations in PWS patients before and after COVID-...

Introduction: The role of genetics in obesity is a much under discussed area. Whilst it is undeniable that environmental factors play a major role in obesity in most cases, there is a small proportion of cases where genetic mutations are the main underlying cause. This includes novel monogenic conditions involving mutations in the Melanocortin-4 receptor (MC4R) signalling pathway. In a healthy individual, the post-meal increase in leptin (LEP) stimulates melan...

Transversal study. Patients from 0 to 17 years of age who had undergone an analytical determination of 25OHD during the year 2021 in our hospital were collected. The following were contrasted: 25OHD, PTH, total calcium, age, sex, reason for requesting analysis, time of year and country of origin. 25OHD ranges: normal >30 ng/mL, suboptimal 20-30 ng/mL and deficit <20 ng/mL; and normal PTH: 9-60 pg/mL.Results: 1. Prevalence of vitami...

Background: IGFALS deficiency is a rare cause of GH insensitivity (GHI). We report a German girl with short stature who was born as 2nd child at 40 weeks of gestation. Her Caucasian parents were unrelated and healthy (target height 168 cm, SDS 0.2). She was born appropriately sized for gestational age (49 cm, SDS -1.2; 2950 g, SDS-1.2). Height (104.8 cm; SDS -2.94) and height velocity (5.1 cm / year; SDS -1.67) were reduced at the age of 6 years.</p...

Background: —Floating-Harbor syndrome(FHS) is a rare autosomal dominant genetic disorder associated with heterozygous mutations in SRCAP gene. The SRCAP protein activates the cAMP-response element binding protein-binding protein(CREBBP) gene that is involved in the regulation of cell growth and division.Objective: To report on long-term follow-up data of a boy with FHSMethods:...