What Turner Syndrome is, how it may affect your fertility, and options for women with this condition.
What Is Turner Syndrome?
Turner Syndrome is a chromosomal abnormality, present only in females, which is caused by the absence of the X chromosome. It occurs in one in every 2,000 live female births. Normally, a baby inherits a total of 46 chromosomes from both parents: 23 from the mother and 23 from the father. A baby boy would receive 46 XY chromosomes and a baby girl would receive 46 XX chromosomes.
In the case of a girl with Turner Syndrome, there is only one X chromosome, rather than two. This is known as XO (the O representing the missing X).
This fault occurs after conception, during cell division of the embryo, when some of the genetic information is lost.
Implications For Women With Turner Syndrome (TS)
The most common symptoms of TS are:
Stunted growth (so women with TS tend to be short)
Swollen and puffy hands and feet
Failure to ovulate / absence of periods.
There can also be other, less common symptoms such as: middle ear infections, hearing difficulties, high blood pressure, narrowing of the aorta (requiring heart surgery), learning disabilities and osteoporosis due to the lack of ovulation.
Not all women will have all the symptoms but nearly every woman with TS is infertile. Treatments for TS include HRT (to try to prevent osteoporosis - it is important to remember that HRT can increase the risk of cancer and DVT when balancing up the pros and cons), growth hormone tablets and regular blood pressure, hearing tests and blood tests to check kidney function.
Options For Women Wanting A Family
If you have TS and want to have a child, you should first have a full medical assessment before embarking upon IVF. Women who suffer from TS are more likely to have heart conditions and pregnancy induced hypertension so it is important that they receive ante-natal care from a specialised, high-risk obstetrician.
Pregnancy related hypertension can cause convulsions in the mother and can be fatal in some cases. The only cure is birthing the baby, so if this condition develops early on, it can result in loss of the baby or premature birth, along with all its risks to the child. The woman must therefore make sure she is a suitable candidate for IVF, and preferably have genetics counselling prior to making a decision.
If it is decided to proceed with IVF, donor eggs must be sought, as ovulation does not occur with Turner Syndrome. The donor egg would then be fertilised with her husband's sperm before being implanted into her womb.
