Raising awareness of a condition that’s not so rare but is rarely diagnosed!
By Ken Scott & the Office for Rare Conditions, Glasgow
10th May 2023
What is Klinefelter’s syndrome?
Klinefelter’s syndrome is a genetic condition that only affects males. It happens when a boy is born with an extra X chromosome which causes him to produce less testosterone than other boys. It is estimated that about 1 in 600 boys has an extra X chromosome but often they are unaware of it. Boys and men with Klinefelter’s syndrome are 100% male and may not even realise they have an extra X chromosome unless it causes problems that require treatment.
Possible features, which are not always present, may include:
- in babies and toddlers – a delay in achieving developmental milestones, having undescended testes, only one testis, or a smaller penis
- in childhood – shyness and low self-confidence, problems with reading, writing, spelling and paying attention, mild coordination/organisation difficulties, low energy levels, and difficulty socialising or expressing feelings
- in teenagers – growing taller than expected for the family (with long arms and legs), broad hips, poor muscle tone and slower than usual muscle growth, reduced facial and body hair that starts growing later than usual, small, firm testes, and enlarged breasts (gynaecomastia)
- in adulthood – inability to have children naturally (infertility), low sex drive, small, firm testes, and erection problems
Learn more about Klinefelter’s syndrome symptoms and treatment here
Watch a video What is Klinefelter’s syndrome? https://youtu.be/71ZyO437w4c
Ken was diagnosed with Klinefelter’s syndrome when he was 36. After having years of unexplained difficulties with learning and socialising with others, finally receiving a diagnosis initially filled Ken with despair. Thankfully, by learning more about what Klinefelter’s syndrome was, receiving testosterone treatment and the correct support, Ken went on to complete a BSc in health studies and post graduate studies on alcohol and drug addiction. Ken is now a trustee of the Klinefelter’s Association (KSA) and works hard to support children and adults with Klinefelter’s syndrome, volunteering on the KSA helpline, raising awareness of the condition and speaking at conferences.
Read Ken’s story
Klinefelter’s Syndrome Association (KSA)
Through their website and helpline, KSA provide information and support for all affected by KS/XXY including families, medical professionals, teachers and anyone else who comes into contact with people diagnosed with KS/XXY.