hrp0092p1-389 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Eight Years of Growth Hormone Treatment in a Patient with Schaaf-Yang Syndrome

Juriaans Alicia , Hokken-Koelega Anita

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 ...

hrp0089p1-p152 | GH & IGFs P1 | ESPE2018

Microalbuminuria and Glomerular Filtration Rate in SGA Born Young Adults

Goedegebuure Wesley , Hokken-Koelega Anita

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...

hrp0082fc10.4 | Programming & Early Endocrinology | ESPE2014

Influence of Newborn and Maternal Factors on Neonatal Body Composition

Breij Laura , Hokken-Koelega Anita

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...

hrp0095p1-510 | Growth and Syndromes | ESPE2022

Temple syndrome: clinical findings and body composition

Juriaans Alicia , Kerkhof Gerthe , Hokken-Koelega Anita

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...

hrp0092p1-366 | GH and IGFs (2) | ESPE2019

Glomerular Filtration Rate in Young Adults Born SGA: A 5-Year Longitudinal Study after Cessation of GH Treatment.

Goedegebuure Wesley , Kerkhof Gerthe , Hokken-Koelega Anita

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 ...

hrp0089p1-p168 | Growth &amp; Syndromes P1 | ESPE2018

GH Response to GHRH and Arginine in Previously GH-Treated Young Adults with Prader-Willi Syndrome

Donze Stephany , Damen Layla , Hokken-Koelega Anita

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...

hrp0086fc6.3 | Syndromes: Mechanisms and Management | ESPE2016

Oxytocin Improves Social and Food-Related Behavior in Young Children with Prader-Willi Syndrome: A Randomized, Double-Blind, Controlled Crossover Trial

Kuppens Renske , Donze Stephany , Hokken-Koelega Anita

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...

hrp0086p1-p806 | Syndromes: Mechanisms and Management P1 | ESPE2016

Metabolic Health and Safety of GH-Treatment in Silver-Russell Syndrome

Smeets Carolina , Renes Judith , Hokken-Koelega Anita

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...

hrp0094p2-294 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The spectrum of the Prader-Willi-like pheno- and genotype

Juriaans Alicia , Kerkhof Gerthe , Hokken-Koelega Anita ,

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...

hrp0095p1-310 | Growth and Syndromes | ESPE2022

The Prader-Willi phenotype and atypical 15q11.2-q13 deletions

Grootjen Lionne , Juriaans Alicia , Kerkhof Gerthe , Hokken-Koelega Anita

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...