Klinefelter syndrome: many men have an extra X chromosome – but it is rarely diagnosed

Three years ago, Paul (not his real name), now 31, went to the doctor with stomach pains. His blood test came back with low testosterone levels. “We went to see a urologist and he said bluntly that we wouldn’t have any options to have kids with my sperm – we would have to use a donor or adopt,” he says. “My wife immediately burst into tears.” The couple had been trying for a child since they married in 2015. Paul was also devastated. “It put so much stress on me, because I thought I couldn’t give my wife or my family what they so desperately wanted.”

Eventually, Paul was diagnosed with Klinefelter syndrome. Affecting about one in 600 men, it is one of the most common genetic conditions in the UK, yet most people have never heard of it – including many who have it. Its symptoms – extra height, persistent tiredness, reduced bodily hair and small testes – can be difficult to identify, meaning it often goes unnoticed by patients and GPs. Untreated, however, it can lead to reduced testosterone and infertility, and even increased prevalence of testicular cancer.

Read the feature in the Guardian.

[This piece was published on 26/08/19]