Turner Syndrome: How It Affects Fertility

Many women with Turner syndrome wonder whether they will be able to get pregnant or become mothers in the future. This genetic condition, which only affects females, occurs when – due to an error in cell division – one of the two X chromosomes is completely or partially missing. This can affect ovarian development and, therefore, fertility, among other factors. Although Turner syndrome and fertility are closely linked, every case is different. Today, a range of fertility treatments allow many women with this condition to achieve a full-term pregnancy.

Understanding Turner Syndrome

To understand what Turner syndrome is, it is important to remember that humans have 46 chromosomes, which contain our genes and DNA. Of these, two are sex chromosomes and determine whether a person is biologically male (XY chromosomes) or female (XX chromosomes).

Turner syndrome is a genetic condition that affects only females and involves the complete or partial absence of one X chromosome. In other words, while most women have two X chromosomes in all their cells, in Turner syndrome one of them may be either missing or incomplete. In some cases, this occurs in a mosaic pattern, meaning that some cells are normal while others carry the chromosomal alteration.

Depending on whether there is mosaicism or whole-gene deletion, the way Turner syndrome manifests can vary greatly from one woman to another. Some may experience milder symptoms, particularly in mosaic cases, where only certain cells are affected. In these situations, a very small percentage of women (between 2% and 5%) may retain sufficient ovarian function to conceive naturally.

Common characteristics of Turner syndrome include:

• Short stature
• A short or webbed neck
• Underdeveloped ovaries
• Absence of menstruation (amenorrhoea)
• Swelling of the hands and feet
• Heart conditions
• Premature ovarian insufficiency leading to infertility

In addition to these features, women with Turner syndrome may also present other abnormalities or health conditions, such as:

• Early-onset hypertension
• Hypothyroidism
• Cardiovascular abnormalities
• Kidney anomalies
• Increased risk of diabetes
• Lymphatic system disorders

The Impact of Turner Syndrome on Fertility

When discussing Turner syndrome and fertility, it is important to note that around 90% of women with this condition experience premature ovarian insufficiency. This means that the ovaries either do not fully develop or stop functioning earlier than expected.

This reduced ovarian function may result in:

• A very low or absent ovarian reserve
• Menstruation not starting or stopping at an early age
• A reduced likelihood of natural conception

For this reason, an individualised fertility assessment by specialists is essential so as to evaluate reproductive options.

Pathways to Motherhood

Although Turner syndrome is closely associated with infertility, there are now several pathways that allow many affected women to achieve pregnancy and fulfil their desire of becoming mothers.

Natural Pregnancy with Own Ovulation

Turner syndrome does not always mean a complete absence of ovarian function. In some cases – particularly in women with mosaic Turner syndrome – there may be some ovarian activity for a limited period of time. This can allow spontaneous pregnancy, although it is very rare and associated with a higher risk of miscarriage or fetal abnormalities.

IVF with PGT (Preimplantation Genetic Testing)

As women with Turner syndrome who conceive naturally have a higher risk of having children with Down syndrome, Turner syndrome or other genetic abnormalities, assisted reproductive techniques such as IVF with preimplantation genetic testing are often recommended. This allows embryos to be screened before transfer, so that only genetically healthy embryos are selected. This reduces the risk of miscarriage and increases the chances of having a healthy baby.

This option is typically indicated for patients with mosaic Turner syndrome who still retain some ovarian function.

Egg Donation

Egg donation is the most appropriate treatment for women with Turner syndrome whose fertility is significantly affected. When a woman does not have her own viable oocytes – which is the case in most situations – pregnancy can be achieved using donor eggs. These are fertilised in the laboratory with sperm from a partner or donor and then transferred to the patient’s uterus.

This treatment offers higher success rates, as it involves eggs from young, healthy donors. However, before starting treatment, a full medical evaluation is carried out to ensure that pregnancy can proceed safely.

Fertility Preservation

In very specific cases, when the diagnosis is made early and some ovarian activity is still present, fertility preservation may be considered. This may involve freezing mature oocytes or retrieval and preservation of ovarian tissue (follicular rescue), offering potential reproductive options in the future.

In assisted reproduction treatments for women with Turner syndrome, the transfer of a single embryo is generally recommended. This helps to avoid multiple pregnancy, which could increase the cardiovascular risks associated with this condition.

Challenges and Solutions

Women with Turner syndrome who wish to become pregnant may face certain medical challenges, but today there are increasingly advanced solutions available within reproductive medicine.

One of the most important steps before attempting pregnancy is a comprehensive medical evaluation, particularly of the cardiovascular system, as some women with this condition may have associated risks requiring careful monitoring.

Once safety has been confirmed, it is essential to work with a specialised team that supports the patient throughout every stage of the process. At experienced fertility clinics such as Tambre, the approach is fully comprehensive, combining medical and emotional support with cutting-edge reproductive technology. This approach is particularly important for women with Turner syndrome and reduced fertility, as each case requires a personalised strategy.

Key pillars of treatment at Tambre include:

• Personalised fertility assessment, to determine whether using the patient’s own eggs is possible or whether egg donation is the most suitable option.
• Highly specialised IVF laboratories, where advanced embryo culture techniques are used to replicate optimal conditions similar to the natural uterine environment.
• Strict embryo quality control, a crucial factor in improving success rates in both own-egg and donor-egg treatments.
• Genetic testing such as Preimplantation Genetic Testing (PGT), allowing embryos to be analysed before transfer to select those that are genetically healthy.
• Personalised endometrial preparation, especially important in women with Turner syndrome. Due to ovarian insufficiency, the body does not naturally produce the hormones needed for the uterus to become receptive. As a result, the endometrium (the lining of the uterus where the embryo implants) is often too thin due to low oestrogen levels. Controlled hormonal treatment is used to prepare the endometrium so that it reaches the optimal thickness and conditions for implantation.
• Individualised care throughout the entire process, with the same medical team supporting the patient from diagnosis through to possible pregnancy.

At Tambre, every stage of the process is carefully managed with the aim of achieving healthy embryos with a high implantation potential. The combination of advanced technology, laboratory precision and clinical expertise helps optimise outcomes in assisted reproduction.

Thanks to this comprehensive approach – combining scientific innovation, clinical experience and personalised care – many women with Turner syndrome have been able to move forward towards their goal of becoming mothers.