Related Experiment Video

Updated: May 16, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

Metabolic syndrome in adult patients with Prader-Willi syndrome

G Grugni1, A Crinò, G Bedogni

  • 1Istituto Auxologico Italiano, Research Institute, Corso Mameli 199, 28921 Verbania, Italy.

Nutrition, Metabolism, and Cardiovascular Diseases : NMCD
|December 11, 2012
PubMed

Insights

Obesity significantly increases metabolic syndrome risk in Prader-Willi syndrome (PWS) adults. Early detection of metabolic syndrome is crucial for managing PWS patients and preventing complications.

Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Prader-Willi syndrome (PWS) is the leading genetic cause of obesity, associated with high morbidity and mortality.
  • Metabolic syndrome (MetS) prevalence differs between obese and non-obese PWS individuals.
  • Previous studies indicated low MetS frequency in non-obese PWS children, but comparable rates in obese PWS and controls.

Purpose of the Study:

  • To determine the prevalence of MetS and its components in a large cohort of Prader-Willi syndrome adults.
  • To analyze MetS occurrence based on obesity status in PWS adults.
  • To compare MetS components between obese PWS adults and obese controls.

Main Methods:

  • A cross-sectional study involving 108 PWS adults (87 obese, 21 non-obese) and 85 obese controls matched for age, gender, and BMI.
  • Assessment of MetS components including waist circumference, insulin, HOMA-index, triglycerides, HDL-C, glucose, and blood pressure.
  • Comparison of MetS prevalence and component frequencies between non-obese PWS, obese PWS, and obese control groups.

Main Results:

  • Non-obese PWS individuals exhibited significantly lower MetS components (waist circumference, insulin, HOMA-index, triglycerides, diastolic blood pressure) and higher HDL-C compared to obese PWS and controls.
  • Obese PWS patients showed higher glucose and systolic blood pressure than both non-obese PWS and obese controls.
  • MetS was diagnosed in 4.8% of non-obese PWS, 41.4% of obese PWS, and 45.9% of obese controls. PWS patients with 15q11-13 deletion had a lower risk of low HDL-C and MetS.

Conclusions:

  • Obesity status is a primary determinant of metabolic risk clustering in adult Prader-Willi syndrome patients.
  • Early identification and management of MetS are essential for improving outcomes and reducing mortality in PWS.
  • Understanding the genetic factors, such as 15q11-13 deletion, may offer insights into personalized risk assessment for MetS in PWS.
Abstract

Keywords:
BMIBPDELETEDHDL-CHOMA-indexHypertensionInsulinLipidsMetSMetabolic syndromeObesityPWSPrader–Willi syndromeT2DMUPD15WCblood pressurebody mass indexhigh density lipoprotein cholesterolhomeostasis model assessment indexinterstitial deletion of the proximal long arm of chromosome 15 (del15q11–q13)metabolic syndrometype 2 diabetes mellitusuniparental maternal disomy for chromosome 15waist circumference

More Related Videos

Pulse-Wave Velocity, Flow-Mediated Dilation, and Carotid Intima-Media Thickness to Assess Cardiovascular Risk in Population with Metabolic Syndrome06:04

Pulse-Wave Velocity, Flow-Mediated Dilation, and Carotid Intima-Media Thickness to Assess Cardiovascular Risk in Population with Metabolic Syndrome

Published on: September 27, 2024

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model09:44

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model

Published on: March 5, 2022

Related Concept Videos

Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
Diabetes: Symptoms, Diagnosis, and Complications01:15

Diabetes: Symptoms, Diagnosis, and Complications

For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is based on...
Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis01:25

Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis

Type 2 diabetes mellitus develops gradually and is often asymptomatic in early stages.Clinical ManifestationsWhen symptoms appear, they include fatigue, blurred vision, pruritus, delayed wound healing, and recurrent infections, particularly candidal infections. Peripheral neuropathy may present as numbness or tingling in the extremities. Classic hyperglycemia symptoms—polyuria, polydipsia, and polyphagia—are less common. Most patients are overweight and frequently have associated hypertension...
Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.
Obesity01:24

Obesity

The Body Mass Index (BMI) is a numerical value derived from a person's weight and height, used to categorize individuals into weight ranges. It is calculated using the formula: weight in kilograms divided by height in meters squared. Obesity is a health condition characterized by excessive accumulation of adipose tissue that poses health risks, often diagnosed with a BMI ≥ 30. This excess fat storage occurs when surplus dietary calories are converted into triglycerides and stored in adipocytes...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...