Genetic Mutation May Cause Early Onset Puberty

Genetic sequencing led to information about early onset puberty. Genetics photo via Shutterstock

Most of us experienced the onset of that wonderful thing called puberty—cue the voice cracks, excessive sweating, and acne—sometime between the ages of 8 and 13 for girls and 9 and 14 for boys. But some experience what doctors call central precocious puberty, or earlier-than-average development of sexual characteristics.

Until recently, researchers weren’t sure what caused central precocious puberty, and they couldn’t figure out how to fix it, either. But researchers at Brigham and Women’s Hospital now say that there is a genetic mutation that leads to early onset puberty, and it’s inherited from the father. A report from Brigham and Women’s says:

“These findings will open the door for a new understanding of what controls the timing of puberty,” said Ursula Kaiser, MD, chief of the BWH Division of Endocrinology, Diabetes and Hypertension, co-senior study author. “It also will allow doctors to diagnose the cause of precocious puberty in a subset of patients, or to identify patients at risk for developing precocious puberty, especially if others in their family are affected. By better understanding the role of this gene in the timing of puberty, we may be able to gain insights into how other factors, such as environmental factors, may influence pubertal timing.

In the study, researchers performed a genetic sequencing analysis of 40 individuals from 15 families with central precocious puberty. In five of the 15 families, researchers identified four mutations on the MKRN3 gene, which is responsible for coding a protein called makorin ring finger protein 3. In plain terms, a mutation in the MKRN3 gene, which occurs in an accidentally shortened MKRN protein, causes the premature activation of reproductive hormones in the body, which then induces early puberty. Researchers also found that all of the affected individuals inherited the mutation from their fathers.

By identifying the genetic mutation responsible for this frustrating condition—which often leads to difficulties in social and psychological development, short stature, and a heightened risk for diabetes, breast cancer, and heart disease—researchers hope that they are one step closer to being able to cure it.