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. 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.
The non-hereditary syndrome was first discovered in 1942. It is caused by the presence of an extra X chromosome, resulting in XXY, as opposed to XY. With only one in six men who have Klinefelter’s ever diagnosed, even though symptoms often emerge during puberty, it may be one of the leading unexplored causes of infertility. Now, the first clinic in the UK to deal solely with Klinefelter’s has opened at Guy’s hospital in London – and its clinicians believe it could revolutionise its treatment and diagnosis.
