ESPE Abstracts

Background: Pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (2 years GnRHa) and even more so with 2 mg/m2 per day (~0.067 mg/kg per day). Concerns haven been raised about the effects of GH and GnRHa on insulin sensitivity on the long-term.Objective and hypotheses: To ...

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.<stro...

Background/Aims: Schaaf-Yang syndrome (SYS) is a rare disorder caused by a truncating mutation in the gene MAGEL2, located in the Prader-Willi critical region on chromosome 15. SYS is characterized as a Prader-Willi-like (PWL) disorder, with neonatal hypotonia, feeding problems in early infancy and intellectual disability, obesity and behavioral problems throughout childhood. In this case report we describe a 15-year-old girl, receiving GH treatment since age ...

Background: Following Barker’s hypothesis on fetal growth retardation, low birth weight and being born small for gestational age (SGA) might be linked to fewer glomeruli which influences adult disease. Growth hormone (GH) treatment leads to a greater kidney length and total kidney volume, as well as a higher glomerular filtration rate (GFR). Microalbuminuria, defined as more than 20 mg/l albumin in random urine sample, is a marker for renal diseases and is a risk factor f...

Background: There is increasing evidence that body composition in early life has both immediate and long-term influence on health. Air-displacement plethysmography creates the opportunity to study the effect of prenatal and early postnatal factors on neonatal body composition. Prenatal maternal factors, such as pre-pregnancy BMI and gestational weight gain, might also influence neonatal body composition.Objective and Hypotheses: We hypothesized that newb...

Background/aims: Temple syndrome (TS14) is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or by an isolated methylation defect. TS14 is considered a Prader-Willi-like (PWL) disorder and phenotypic features include pre- and postnatal growth retardation, hypotonia, feeding difficulties, precocious puberty, short stature and truncal obesity.Methods: Thi...

Background: GH treatment increases glomerular filtration rate (GFR), as serum IGF-I stimulates the renin-angiotensin system. Data on longitudinal changes in GFR after cessation of GH treatment in young adults born small for gestational age (SGA) are not available. It is essential to ascertain longitudinal data after cessation of GH treatment, to evaluate the possible long-term effects of higher serum IGF-I levels during childhood treatment on adult GFR.<p ...

Context: Some of the features of subjects with Prader-Willi syndrome (PWS) resemble those seen in subjects with growth hormone deficiency (GHD). Children with PWS are treated with long-term growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS have to stop GH treatment after attainment of adult height when they do not have adult GHD. Limited information is available about the prevalence of adult GHD in patients with PWS.<p c...

Background: Prader-Willi syndrome (PWS) is known for hyperphagia with impaired satiety and a specific behavioral phenotype with stubbornness, manipulative and controlling behavior and obsessive-compulsive features. PWS is associated with hypothalamic and oxytocinergic dysfunction. In humans without PWS, intranasal oxytocin administration had positive effects on social behavior and weight balance.Objective and hypotheses: To evaluate the effects of intran...