MC3R controls growth and puberty onset

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Nutritional availability is known to have a large effect on growth and the onset of puberty; however, the mechanism linking these factors was unclear. Now, a new study in Nature identifies the melanocortin receptor MC3R as a key mediator of pubertal timing, childhood growth and body composition.

The researchers used human embryonic kidney cells to test the ability of three of these deleterious variants to produce cAMP in vitro. They found that the MC3R variants with the most pronounced deficiency in cAMP signalling also resulted in a greater delay in puberty and shorter stature in both women and men. The striking discovery of an individual with complete loss of function of MC3R who was of extremely short stature and who did not start puberty until his early 20s confirmed this ‘dose–response’ relationship between MC3R functionality and the control of growth and puberty onset.