ESPE Abstracts

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: ...

Introduction: Most patients with Prader-Willi syndrome (PWS) have a mild to moderate cognitive impairment. Growth hormone (GH) treatment has positive short- and long-term effects on cognition in children with PWS. Few studies, however, have investigated the effects of GH on cognitive functioning in adults with PWS.Objective: To investigate the effects of 3 years GH treatment on cognitive functioning in young adults with ...

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...

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 ...