What is Turner Syndrome and how does it affect fertility?

Turner syndrome is a rare genetic condition that affects approximately 1 in 2,000 baby girls. It exclusively affects females and can lead to underdeveloped ovaries, resulting in infertility. While there is no cure for Turner syndrome, early diagnosis and treatment can help manage symptoms, allowing individuals to lead healthy lives.

Symptoms of Turner Syndrome

Symptoms can vary among girls and women and can sometimes be subtle, making clinical identification difficult. Symptoms may include:

• Short stature

• Broad chest with widely spaced nipples

• Webbed or broad neck

• Low hairline at the back of the neck

• Abnormal bone development, e.g., hands and elbows

• Low-set ears

• Unusual eye features

• Lack of breast development

• Irregular menstrual periods or no periods at all

• Under-developed ovaries, affecting puberty and leading to infertility

• Health problems such as high blood pressure, obesity, and thyroid issues

• Learning difficulties

How is Turner Syndrome diagnosed?

Turner Syndrome can be difficult to recognise clinically because the characteristic facial features can be subtle. The condition is often diagnosed at birth or during childhood, when typical physical features or symptoms can be noticed. A blood test can be conducted to confirm the diagnosis.

Additionally, Turner Syndrome may be diagnosed in the fetus during pregnancy if any issues with the heart or kidneys are detected, typically during ultrasound scans. Most women with Turner Syndrome receive initial care from a paediatrician. However, it is essential to maintain ongoing monitoring of the condition into adulthood.

Fertility treatment options

Currently, there is no cure for Turner syndrome, but various treatments, therapies, and medications can help manage symptoms and enable individuals to build the families they have always longed for. Treatment options may include:

• Hormone replacement therapy (HRT) -  Individuals with Turner Syndrome often experience deficiencies in oestrogen and progesterone, which are normally produced by the ovaries. HRT can replace these hormones and is recommended for girls and women with Turner syndrome who experience ovarian failure. 

  Treatment generally begins around the age of 11 or 12, starting with low doses to induce puberty, which are gradually increased. Progesterone is added later to induce menstruation and maintain uterine health. Benefits of HRT include a decrease in the risk of blood clots, better blood pressure control, improved bone mass, and enhanced effectiveness of growth hormone. 

• Egg donation - For most individuals, egg donation and in vitro fertilisation (IVF) are common methods for conception. Due to premature ovarian failure, many individuals with Turner syndrome are unable to produce eggs; therefore, egg donation can aid in their fertility treatment. There are various considerations to take into account; however, our fertility specialists will discuss these in detail and go through the most suitable options. 

• Surrogacy - Surrogacy, or gestational surrogacy, is a safe option for women with Turner syndrome. This process involves another person carrying and delivering a child for an individual or couple. The surrogate undergoes IVF, where an embryo, created using the intended parents' or donors' egg and sperm, is transferred to the carrier’s uterus. It is important to note that with gestational surrogacy, the surrogate and child are not biologically related. This means that one or both of the intended parents can be genetically related to the child.