ESPE Abstracts

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 ...

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: ...

Introduction: Following the onset of the COVID-19 pandemic in spring 2020, the European Registries For Rare Endocrine Conditions (EuRRECa), which is a collaboration between Endo-ERN, ESPE and ESE provided the possibility for registration of cases. Obesity is a risk factor for severe COVID-19 disease course in adults. In children and adolescents, COVID-19 disease course is much milder, but has also been identified as risk factor. As rare genetic obesity disorde...

Background: GH treatment results in a decrease in fat mass (FM) and insulin sensitivity (Si), and an increase in lean body mass (LBM). Only limited data are available on the longitudinal changes after discontinuation of GH treatment in SGA adults, aged 21 years.Objective and hypotheses: To assess longitudinal changes in body composition (BC) and glucose homeostasis after stop of GH treatment in SGA adults.Method: 197 previously GH-...

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...

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...