In a world-first, a woman with Turner syndrome – which jeopardises fertility as it causes girls to lose their eggs at an accelerated rate – recently gave birth to a healthy baby of her own, after treatment at the Brussels University Hospital (UZ Brussel).
Turner syndrome is one of the most common disorders caused by abnormalities of the sex chromosomes and is genetic but non-hereditary. Girls with the syndrome are missing one of the two X chromosomes in a variable proportion of the cells in their bodies.
It affects some 2,000 girls and women in Belgium alone, and usually involves a growth disorder and an increased risk of heart defects, as well as a possible delay in breast development and menstruation due to accelerated loss of eggs.
To increase the chance of having a child of their own, Turner patients can have their eggs frozen as soon as they reach puberty, but the process is preceded by a hormonal treatment.
"It is important that the girl herself receives sufficient psychological and medical guidance to be able to consider this step in an informed and well-considered way," fertility specialist at the UZ Brussel's IVF centre for reproductive medicine Michel De Vos said in a press release.
He stressed that awareness-raising among doctors and parents is also crucial, as it can offer patients with Turner syndrome a completely different perspective in the future. "A desire to have children often remains something fundamental."
The change in classification may also be decisive for the feasibility of these women's desire to have children, explained De Vos. "After all, this fertility treatment is currently only reimbursed for cancer patients, while there are other conditions that also have an impact on fertility."
Some girls with Turner syndrome lose all their eggs very quickly, sometimes even before puberty, meaning they are often too late to decide if they want to have their eggs frozen.
In those cases, transgenerational donation is also a possiblility, the UZ Brussel stated. Then, the girl's mother – when she is still young enough – undergoes a hormone treatment. After that, her egg cells are frozen, intending to possibly donate them to her daughter with Turner syndrome in the event of infertility.