Raising awareness of the little-known Turner syndrome

Specialists offer advice in Torremolinos.
Specialists offer advice in Torremolinos. / TONY BRYANT
  • Diagnosis of this disease, that affects one in 5,000 women, can be made before birth, although sometimes the symptoms may not become evident until adulthood

Torremolinos town hall and the Asociación Síndrome de Turner Andalucía (ASTA) hosted a special morning to raise awareness of the little-known Turner syndrome recently. The event was used as a platform to inform people about the characteristics of the disease, which affects approximately one in every 5,000 woman.

The Plaza Blas Infante in Torremolinos was illuminated with pink lighting as a representation of the fight against Turner syndrome and specialists were on hand to answer questions concerning all aspects of the disease.

Turner syndrome (TS) is a genetic condition in which a girl is born without an X chromosome, or only part of the chromosome that contains the genes that determine physical and developmental characteristics.

While most people have 46 chromosomes, people with TS usually have 45. There is no cure for this disease, but specialist treatment can help with most symptoms.

Diagnosis is based on physical signs and genetic testing. Girls born with TS often have a short neck, low-set ears and swollen hands and feet. Vision and hearing problems can also occur and sufferers are unable to have children without reproductive technology. The more harmful aspects are heart defects and diabetes, so people with TS generally have a shorter life expectancy.

The diagnosis can be performed at any stage, even before birth, although sometimes it is so difficult to detect that the symptoms may not become evident until adulthood. Turner syndrome is not thought to be hereditary and the mother’s age does not play a role, but 99 per cent of TS conceptions end in miscarriage or stillbirth.