Characterization of Alterations in Carbohydrate Metabolism in Children with Prader-Willi Syndrome

Krochik, Gabriela; Ozuna, Blanca; Torrado, M; Chertkoff, Lilien; Mazza, Carmen

doi:10.1515/jpem.2006.19.7.911

Cited by 34 publications

(21 citation statements)

References 22 publications

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“…Prevalence of T2DM in a pediatric population presenting with PWS is low (0–3.6%) in the studies published in the past 7 years [13,30,43]. The prevalence of T2DM in children enrolled in the International KIGS Database is less than 2% (6/1,135) [pers.…”

Section: Discussionmentioning

confidence: 99%

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

et al. 2010

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Aim: The first results from the French National Prader-Willi pediatric database in a cohort of 142 children aged 0.2–18.8 years are reported. This database gathers information about the endocrine dysfunctions traditionally described in Prader-Willi patients. Methods: Questionnaires were filled in by the patients’ practitioners. The coordination team of the reference center performed the statistical analysis. Results: Median BMI Z-score was +1.3 for a median age of 7.1 years, and 40% of the population were overweight or obese (International Obesity Task Force 2000 criteria). Growth hormone deficiency was present in 80% of patients and 86.7% were treated, with a height gain of +1 SD and a BMI reduction of –0.8 Z-score achieved in the first year of treatment. Hypogonadism was present in 49% of patients, and hypothyroidism in 24.4%. Glucose intolerance was found in 4% of patients, but no diabetes mellitus was detected in the 74 patients explored. Conclusion: Our report gives an overview of endocrine dysfunctions recorded in a large registry database of French children and adolescents with Prader-Willi syndrome. The database, which now encompasses six southern regions of France, will be further extended to the whole country and to adult patients.

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Section: Discussionmentioning

confidence: 99%

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

et al. 2010

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“…Interestingly, PWS patients show signs of pancreatic insufficiency with reduced insulin levels relative to the degree of obesity (23,26,27,39,49,54,61) and reduced PP levels in response to nutrients (63,74,75). Diabetes affects ϳ25% of the PWS population, with both insulin-dependent and insulin-independent diabetes described (3,51,54).…”

Section: Discussionmentioning

confidence: 99%

“…Endocrine features of PWS include low growth hormone (GH) response in stimulation tests (9,50), deficient gonadotropin secretion (8,9,25), low insulin-like growth factor (IGF)-I (9,50), and low IGF-binding protein-3 (23). Plasma levels of insulin are lower than expected in children and adults with PWS relative to the degree of obesity and are generally assumed to be secondary to a deficient GH-IGF axis (23,25,27,39,49,54,61). In addition, levels of circulating pancreatic polypeptide (PP) in response to meals are reduced in PWS (63,74,75).…”

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confidence: 99%

Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome

Stefan

Simmons

Bertera

et al. 2011

American Journal of Physiology-Endocrinology and Metabolism

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Prader-Willi syndrome (PWS) is a multisystem disorder caused by genetic loss of function of a cluster of imprinted, paternally expressed genes. Neonatal failure to thrive in PWS is followed by childhood-onset hyperphagia and obesity among other endocrine and behavioral abnormalities. PWS is typically assumed to be caused by an unknown hypothalamic-pituitary dysfunction, but the underlying pathogenesis remains unknown. A transgenic deletion mouse model (TgPWS) has severe failure to thrive, with very low levels of plasma insulin and glucagon in fetal and neonatal life prior to and following onset of progressive hypoglycemia. In this study, we tested the hypothesis that primary deficits in pancreatic islet development or function may play a fundamental role in the TgPWS neonatal phenotype. Major pancreatic islet hormones (insulin, glucagon) were decreased in TgPWS mice, consistent with plasma levels. Immunohistochemical analysis of the pancreas demonstrated disrupted morphology of TgPWS islets, with reduced α- and β-cell mass arising from an increase in apoptosis. Furthermore, in vivo and in vitro studies show that the rate of insulin secretion is significantly impaired in TgPWS β-cells. In TgPWS pancreas, mRNA levels for genes encoding all pancreatic hormones, other secretory factors, and the ISL1 transcription factor are upregulated by either a compensatory response to plasma hormone deficiencies or a primary effect of a deleted gene. Our findings identify a cluster of imprinted genes required for the development, survival, coordinate regulation of genes encoding hormones, and secretory function of pancreatic endocrine cells, which may underlie the neonatal phenotype of the TgPWS mouse model.

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“…Insulin resistance is thought to be the cardinal mechanism underlying Mets 29) . However, individuals with PWS seem to have a lower risk for insulin resistance than simple obese subjects, both in children and in adults 5,30) . In this light, the question arises as to whether there is the same pathogenetic relationship between CVD and the development of Mets in PWS as in non-syndromic obesity.…”

Section: Metabolic Syndrome In Prader-willi Syndromementioning

confidence: 99%

Obesity and Metabolic Syndrome in Adults with Prader-Willi Syndrome

Kim¹

2015

Journal of mucopolysaccharidosis and rare disease

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Characterization of Alterations in Carbohydrate Metabolism in Children with Prader-Willi Syndrome

Abstract: Patients with PWS presented lower insulin resistance and a dissociation between beta-cell secretion and the degree of obesity.

Cited by 34 publications

References 22 publications

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome

Obesity and Metabolic Syndrome in Adults with Prader-Willi Syndrome

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