ESPE Abstracts

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...

Background: Silver-Russell syndrome (SRS) is characterized by small for gestational age (SGA) birth, severe short stature and variable dysmorphic features. Children born SGA are at increased risk to develop adult-onset disease at a relatively young age. Growth hormone (GH)-treatment is a registered growth-promoting therapy for short children born SGA, including SRS. Data on metabolic health and long-term safety of GH-treatment in SRS are limited.Objectiv...

Background/aims: Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients with characteristics similar to PWS, but without the typical genetic aberration of the 15q11-q13 region, have been described. These patients are often labelled as Prader-Willi-like (PWL). PWL is an as-yet poorly defined syndrome, potentially affecting a significant num...

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15. Either a paternal deletion of the PWS region (50%), a maternal uniparental disomy (mUPD; 43%), an imprinting defect (4.1%) or translocation (<1%) can lead to PWS. Deletions are almost always de novo and manifest either as a large type I or a smaller type II deletion. In more rar...

Background/aims: Temple syndrome (TS14) is a rare 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. Some patients with TS14 are treated with growth hormone (GH). However, evidence for the effectiveness of GH-treatment in patients with TS14 is very limited.Methods: ...

Context: Children with Prader-Willi syndrome (PWS) generally have mild to moderate cognitive impairment with an IQ between 60 and 70. Growth hormone (GH) treatment is a registered treatment for children with PWS and has been associated with cognitive benefits, attributed to the effects of GH and insulin-like growth factor on brain growth and development. Short-term data suggest positive effects of GH treatment on cognitive functioning in children with PWS. The...