Europe's first children's clinic for genetic condition

Evelina London Children's Hospital has launched Europe's first multidisciplinary clinic for children with a rare condition.

The specialist service will support boys up to the age of 14 with the rare condition Klinefelter syndrome. This is a chromosomal condition that affects around 1 in every 660 males.

Males with the condition are born with an extra X chromosome. Typically, a male baby has 1 X and 1 Y chromosome and a female baby has 2 X chromosomes.

In adulthood Klinefelter syndrome can cause male infertility, metabolic syndrome and higher risk of cardiovascular disease and osteoporosis.

The condition can also cause problems with learning, attention, energy levels and socialising. It can affect muscles, testicles, facial and body hair growth.

There is a lack of common knowledge about some of the features of Klinefelter syndrome and it can take some patients many years to get a diagnosis. Usually young people are diagnosed after experiencing behavioural and developmental problems at school.

Infertility or relative lack of testosterone can be treated with gonadotrophin-releasing hormone or testosterone replacement therapy but patients need access to a range of medical specialties including geneticists, endocrinologists, neurodevelopmental and psychological support.

The new one-stop-shop clinic, run by staff at Evelina London and Guy's and St Thomas', brings all these medical specialities together in one setting. Children will be reviewed at ages 5 and 10, and then yearly throughout puberty. When they are 14, they will transition to the young person's clinic, where they will be reviewed every 6 months.

Mel, a mother from Lincolnshire, attended the new clinic with her 8-year-old son Jackson, who was diagnosed with the condition 3 years ago.

Mel said: "It was so nice to come to the clinic and meet a range of experts who knew about Jackson's condition and who understood his needs at this stage of his development. The whole team was amazing and really accommodating of Jackson's needs, as he also has autism and can find medical appointments challenging. It was great to meet all the different team members who were so helpful, especially having that psychological support.

We've previously found there can be a lack of understanding and little information known about Klinefelter syndrome so to come here has been really life-changing for our family.

Tet Yap, consultant andrological surgeon and lead for the Klinefelter syndrome clinic at Guy's and St Thomas', said: "We are delighted to be opening our Klinefelter syndrome clinic for children. This is our final step in ensuring we have a comprehensive service for all patients with Klinefelter syndrome, no matter their age."

Alessandra Cocca, consultant in paediatric endocrinology and lead for the paediatric Klinefelter clinic at Evelina London, said: "This clinic will specifically cater for the needs of children, and provide tailored advice and support as their symptoms develop before they reach puberty."

The Klinefelter syndrome clinic is based at the Rare Diseases Centre in St Thomas' Hospital for patients across the UK.