What characterizes individuals with MC4R deficiency in terms of stature?

Individuals with MC4R (melanocortin-4 receptor) deficiency are typically characterized by tall stature. This condition is caused by a genetic mutation that affects the central regulation of appetite and energy balance. MC4R plays a crucial role in the control of hunger and energy expenditure, and when it is deficient, individuals often exhibit a hyperphagic condition, leading to obesity. However, these individuals tend to also have an increase in linear growth or height.

The impact of MC4R deficiency on stature is linked to the metabolic and hormonal pathways that regulate growth. As a result, while individuals may be predisposed to obesity due to their inability to properly regulate calorie intake, they can also exhibit taller than average height due to the dysregulated growth signals associated with their genetic condition. Therefore, individuals with this deficiency are often noted for being tall, despite their obesity, as the metabolic pathways influence both height and weight.