A new study led by researchers from University College London in the UK and the University of Milan in Italy has identified a genetic mutation that may be responsible for a condition that delays or prevents puberty, known as Kallmann syndrome.

Share on Pinterest Researchers found a mutation in a gene called SEMA3E stops GnRH production, preventing puberty.

Kallmann syndrome is a rare inherited disorder estimated to affect around 1 in 10,000-86,000 people in the US, and it is more common among men. The condition is characterized by delayed onset or absence of puberty, alongside a reduced or diminished sense of smell.

Kallmann syndrome is caused by genetic mutations that interfere with gonadotropin-releasing hormone (GnRH). GnRH is released by nerve cells, or neurons, in the brain and is responsible for triggering puberty.

If diagnosed early enough, Kallmann syndrome can be treated with hormone injections. However, only around 40% of the genetic mutations responsible for the condition have been identified, meaning diagnosis is often delayed because it is hard to confirm its presence.

Now, study leader Dr. Anna Cariboni, of the Institute of Ophthalmology at University College London (UCL) and the Department of Pharmacological and Biomolecular Sciences at the University of Milan, and colleagues have identified another genetic mutation responsible for Kallmann syndrome, called SEMA3E.

What is more, the team has pinpointed exactly how the genetic mutation causes the condition.