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Shared Genetic Variants Affect Puberty Timing In Both Sexes

A new study, published in Nature Communications, conducted by researchers from the University of Cambridge has revealed that several of the same genetic factors affect the timing of puberty for both males and females. Furthermore, early puberty in males was also linked with greater risks of developing certain diseases.


The results of the new study are described as being the first to constitute a quantification of the shared genetic basis for the timing of puberty in the two sexes.

“Until now, most of our understanding of the biological regulation of puberty timing has come from large studies of healthy women, in whom the stages of puberty are usually easier to remember, or studies of patients affected by rare disorders. Research has been scarce in men, largely because investigators have disregarded the accuracy that men can recall pubertal events,” explains study lead Dr. John Perry, from the MRC Epidemiology Unit at the University of Cambridge.

When the genetic data of over 55,000 male participants was analysed and compared to that of more than 250,000 females, 106 genetic variants altering puberty timing in females that were previously analysed in other studies were found to generate similar effects on males as well.

Also, the genetic regions determining the age at which the larynx of males lengthens when stimulated by male hormones were particularly studied at length – the event appears to be indicative of the puberty timing.

“Our study shows that although there are obvious physical differences in pubertal development between boys and girls, many of the underlying biological processes governing it are the same. It also shows that the age when men’s voices break, even when recalled decades after the event, is an informative measure of puberty timing,” says co-author Dr. Felix Day also from the MRC Epidemiology Unit.

The researchers also found 5 new genetic variants linked with puberty timing, some of which involved known hormone pathways while others entailed unknown ones.

Also, many of the genes were also shared with diseases appearing later in life; earlier puberty in males seemed to be associated with poorer health for the majority of diseases.

“There was already good evidence in women that earlier puberty timing leads to higher risks for health outcomes later in life such as Type 2 diabetes, obesity and cardiovascular disease. We now show that the same is true in men. The next steps will be to understand how to prevent early puberty in boys and girls, possibly by reducing childhood overweight and obesity, or by other means,” says co-lead author, Dr. Ken Ong.


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