Rare Endocrinology News

5 Facts you should know about

Bardet-Biedl Syndrome

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1

Symptoms include retinal degeneration, obesity, reduced kidney function, and polydactyly

2

Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen

3

BBS patients often experience hyperphagia - an abnormally strong, incessant sensation of hunger or desire to eat often leading to overeating

4

The melanocortin-4 receptor pathway (MC4R pathway) in the hypothalamus is responsible for regulating hunger, food intake, satiety, and energy expenditure

5

Impaired MC4R signaling can lead to early-onset, severe obesity and hyperphagia, irrespective of environmental and lifestyle factors

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