He's back with his X

GARDEN ROUTE NEWS - Three years after he cycled around the Western Cape to raise awareness of Klinefelter syndrome, a little-known disease that affects men, Stephen Malherbe is once more championing the cause.

This time he is driving to various towns in the province and meeting with doctors and health practitioners at hospitals to educate them about Klinefelter syndrome.

Malherbe started in his native Cape Town and he is now roughly two thirds of the way through his awareness campaign, having visited Calitzdorp, Oudtshoorn, Plettenberg Bay, Knysna and Sedgefield, with Wilderness, George, Mossel Bay, Albertinia and Riversdale still to come.

The 65-year-old Capetonian was diagnosed with Klinefelter at the age of 17 after having struggled through high school.

It was the start of his lifelong journey to raise awareness about the syndrome, which occurs in one in every 500 males.

This means there could be one boy in every high school with Klinefelter's, without them even realising it. If you haven't heard of Klinefelter's, no one would blame you, as knowledge of the syndrome is scarce, according to Malherbe.

"Very few people know about it. Even in the medical field information on the syndrome is few and far between," he says.

What is Klinefelter's?

Klinefelter's is a genetic disorder - not hereditary - where males develop at least one extra X-chromosome in their cells, so instead of the "normal" 46 chromosomes (23 pairs), an affected male would have 47. The typical male chromosomal structure is XY, but in men with Klinefelter's it is XXY (a female's chromosomal make-up is XX).

Symptoms include learning disability, attention deficit hyperactivity disorder (ADHD), low sex drive, lack of libido, infertility, poor expressive and receptive language skills, low muscle tone, and potential rudimentary breast development.

How do you check for Klinefelter's?

You will need to go for blood tests to determine the levels of hormones such as testosterone. You will also need to undergo a karyotype test to determine whether there is indeed an extra X-chromosome.