Scientists ID Gene Behind Early Onset Puberty
Discovery could help children with 'central precocious puberty,' give insights to development
Wednesday, June 5, 2013
The condition, known as central precocious puberty, appears to be inherited via a gene passed along by fathers, say researchers reporting online June 5 in the New England Journal of Medicine.
Besides helping children with central precocious puberty, "these findings will open the door for a new understanding of what controls the timing of puberty" generally, co-senior study author Dr. Ursula Kaiser, chief of the endocrinology, diabetes and hypertension division at Brigham and Women's Hospital in Boston, said in a hospital news release.
According to the authors, the mutation leads to the start of puberty before age 8 in girls and before age 9 in boys. That's earlier than the typical onset of puberty, which begins in girls between ages 8 and 13 and in boys between ages 9 and 14.
The study included genetic analyses of 40 people from 15 families with a history of early puberty. In five of the 15 families, the researchers discovered four mutations in the MKRN3 gene. A mutation in the MKRN3 gene can lead to premature activation of reproductive hormones and trigger early puberty, the study authors explained in the news release.
All of the people with the MKRN3 mutations inherited them from their fathers.
One expert who reviewed the research said the finding should be a great advance for children with central precocious puberty.
Testing children for the MKRN3 mutation "may help in the diagnosis, preventing the use of extensive testing and procedures such as MRI of the head," explained Dr. Patricia Vuguin, pediatric endocrinologist at Steven & Alexandra Cohen Children's Medical Center of New York, in New Hyde Park, N.Y.
She said better diagnostic tests would help spot patients at risk for early puberty and problems that often accompany it, such as short stature, psychological issues and other possible health issues. More generally, "the diagnosis will also help understand the role of this gene and other associated genes on how and when kids go into puberty, an area that is currently not clear," Vuguin said.
The findings will also be presented June 17 at the Endocrine Society's annual meeting.
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