Abstracts - Orals, Featured Poster Presentations, and Posters
SUN 690-701-Obesity Pathophysiology
Expo Halls ABC (Moscone Center)
Poster Board SUN-690
Bardet-Biedl syndrome is a genetic autosomal recessive disorder, characterized by abdominal obesity, mental retardation, polydactyly, hypogonadism, retinal dystrophy or pigmentary retinopathy and renal constitutional abnormalities or functional impairment. Obesity and metabolic syndrome are common manifestations in the Bardet-Biedl syndrome. Obesity associated with metabolic syndrome in early childhood increases the risk of prothrombotic and cardiovascular diseases. In syndromic cases with obesity such as Bardet-Biedl, possibility that myocardial infarction and thromboembolic events could develop at early age should be considered. In this study, whether there were polymorphisms on cardiovascular susceptibility genes were investigated in two Bardet-Biedl cases who visited with obesity and in whom metabolic syndrome was determined. In both cases, polymorphisms were detected on Factor V, Factor XIII, methylenetetrahydrofolate reductase (MTHRF), Plasminogen activator inhibitor-1 (PAI-1) (4G/5G), Glycoprotein IIIa receptor (HPA-1), and Apoprotein-E3/3 genes.
In conclusion, in syndromic cases with metabolic syndrome, possibility that thromboembolic diseases and myocardial infarction could develop at early age should be kept in mind. Detecting genetic susceptibility in such cases and monitoring the patients may be life saving especially in conditions at risk such as dehydration, severe infection, and operation.
Nothing to Disclose: AE, OE, SA
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