ESPE Abstracts

Background: Children with Prader–Willi syndrome (PWS) attain high serum immunoreactive IGF1 levels during standard dose GH treatment, which leads to concern, but lowering the dose, deteriorates their body composition.Objective and hypotheses: To evaluate serum IGF1, IGFBP3 and acid-labile subunit (ALS) levels, complex formation and IGF-bioactivity in GH-treated PWS children. We hypothesized that GH-treated children with PWS have a normal IGF-bioacti...

Background: The Dutch HYPOthalamic and PITuitary gene (HYPOPIT) study investigates the genetic and non-genetic causes of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). Former projects within the HYPOPIT study showed that only a small minority of the Dutch IGHD and CPHD cases could be explained by mutations in GH1, GHRHR, HMGA2 and CDK6 in IGHD patients and PROP1, HESX1, POU1F1, LHX3</...

Background: Prader–Willi syndrome (PWS) is characterized by a switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in early childhood. An elevated, more unfavorable ratio between acylated:unacylated ghrelin (AG:UAG) may be involved in the underlying mechanisms of this switch.Objective and hypotheses: To assess the evolution of the appetite regulating hormones AG, UAG, and the AG:UAG ratio in infants with PWS a...

Background: Non-alcoholic fatty liver disease (NAFLD) is considered the hepatic manifestation of metabolic syndrome. Accelerated catch-up in weight during infancy in subjects born term has been associated with increased risk for NAFLD in adulthood, but this association has not been studied in subjects born preterm.Objective and hypotheses: To investigate the associations of birth weight, gain in weight for length and accelerated catch-up in weight in the...

Context: Clinical findings characterizing PWS are muscular hypotonia, abnormal body composition, developmental delay, behavioral problems, hyperphagia with obesity when food intake is not restricted and short stature. Endocrine problems are described, like hypogonadism, hypothyroidism and adrenal insufficiency and growth hormone (GH) deficiency. Hypothalamic dysfunction may be responsible for many features of PWS. Randomized controlled studies showed that GH t...

Background: Short stature has been associated with a reduction in health-related quality of life (HRQoL) and more problem behavior in children and adults. In adolescents who were treated with growth hormone (GH) because of persistent short stature after being born SGA, an increase in HRQoL and decrease in behavioral problems was seen during or right after cessation of GH-treatment. However, long-term data, to analyze if these positive effects remain many years...

Background and aims: Poly- and perfluoroalkyl substances (PFAS) are non-degradable, man-made-chemicals. PFAS are considered to be ‘Endocrine Disrupting Chemicals’ (EDCs), a group of chemicals which have been reported to interfere with endocrine processes and cause adverse effects on perinatal, neurodevelopmental, metabolic and reproductive outcomes. Especially when exposure occurs during susceptible periods of human development, such as early life....

Context: In the newborn period, failure to thrive (FTT) with feeding difficulties and severe hypotonia are prominent in Prader-Willi syndrome (PWS). Despite the low weight, abnormal body composition is already present at birth in both children with FTT and those without. Limited studies reported the prevalence of FTT in infants with PWS and it has not yet been described whether GH-treatment has different effects in infants with FTT compared to those without.</...

Introduction: Hypogonadism affects almost all males with Prader-Willi syndrome (PWS) and is associated with decreased bone mineral density (BMD). Testosterone Replacement Therapy (TRT) improves BMD and aids sexual maturation, but TRT could aggravate challenging behaviour that many patients with PWS already suffer from, causing reluctance in starting TRT in males with PWS. This study aims to provide more evidence on the effect of TRT on behaviour, BMD and body ...

Background: The French population of the SAGhE study showed an increased morbidity and mortality due to cerebrovascular disease in growth hormone (GH) treated subjects compared to the general population. Cerebrovascular health can be assessed using neuroimaging markers on MRI. One of the markers is white matter hyperintensity (WMH).Objective: To assess cerebrovascular health by scoring WMH on MRI in young adults born sma...