A major London hospital has launched Europe’s first multidisciplinary clinic for children with the rare genetic condition Klinefelter syndrome.
The centre at the Evelina Children’s Hospital will aim to improve diagnosis of children with the condition, which can cause serious problems including infertility and cardiovascular disease.
Around one in 660 men are affected by the condition.
Males with the condition are born with an extra X chromosome. Typically, a male baby has one X and one Y chromosome and a female baby has two X chromosomes.
Klinefelter syndrome can also cause problems with learning, attention, energy levels and socialising.
Many patients struggle to get a diagnosis as there is a lack of common knowledge about some of the features of the condition. 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 clinic will bring all these specialties together under one roof.
Children will be reviewed by doctors at ages five 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 six months.
Mel, from Lincolnshire, attended the new clinic with her eight-year-old son Jackson, who was diagnosed with the condition three years ago.
She 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.”
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.”
