Turner Syndrome and Primary Ovarian Insufficiency (POI)

Turner Syndrome and Primary Ovarian Insufficiency (POI): What You Need to Know

What is Turner Syndrome?

Turner Syndrome is a genetic condition that affects about 1 in 2,000 girls. It happens when one of the two X chromosomes usually present in females is missing or partly missing. This change can affect growth, development, and certain organs.

Some common features of Turner Syndrome include:

• Short stature (girls often grow more slowly than peers)

• Ovarian underdevelopment or early ovarian failure

• Certain heart, kidney, or thyroid problems

• Distinctive physical features in some, such as a broad chest, webbed neck, or low hairline

Not everyone with Turner Syndrome looks the same or has the same health issues — the condition varies widely.

How are Turner Syndrome and POI linked?

In Turner Syndrome, the ovaries often don’t develop properly. This means most girls and women with Turner Syndrome will experience POI, often at a very young age.

• About 80–90% of girls with Turner Syndrome have ovarian insufficiency.

• Some may go through normal puberty and even have a few menstrual cycles, but most will stop having periods early.

• Only about 5–10% of women with Turner Syndrome conceive naturally.

Because of this, POI is one of the most common and important health issues in Turner Syndrome.

Why does it matter?

Oestrogen plays a vital role in bone strength, heart health, brain function, and overall wellbeing. When oestrogen is lost too early, as in Turner Syndrome, it can have long-term health consequences if not replaced.

This is why hormone replacement therapy (HRT) is considered essential for most girls and women with Turner Syndrome and POI.

Treatment and support:

1. Hormone replacement therapy (HRT)

    • Usually started in adolescence to help induce puberty.

    • Continued into adulthood to protect bone and heart health until at least the natural age of menopause (around 50 years).

    * HRT may be given as tablets, patches, or gels.

2. Fertility options

    • Spontaneous pregnancy is rare, but with medical support, women with Turner Syndrome may be able to have children.

    • Options include using donor eggs with IVF, or in some cases, experimental techniques such as ovarian tissue freezing if there is some early ovarian activity.

    • Because Turner Syndrome can be linked with heart problems, pregnancy always requires careful specialist assessment first to make sure it is safe.

3. Monitoring overall health

    • Regular check-ups for blood pressure, heart scans, thyroid function, and bone density.

    • Support with learning, mental health, and emotional wellbeing, as Turner Syndrome can bring challenges beyond physical health.

Emotional impact

Living with Turner Syndrome and POI can be tough emotionally. The diagnosis often comes at a young age, and learning about infertility or hormone therapy early in life can be overwhelming. Support from family, peer groups, and specialist clinics makes a big difference.

In Summary:

• Turner Syndrome is a genetic condition that commonly leads to POI.

• Most girls and women with Turner Syndrome will need hormone replacement therapy to support puberty, bone health, and long-term wellbeing.

• Fertility is often affected, but options exist — though safety (especially heart health) must always be checked first.

• With the right medical care and emotional support, women with Turner Syndrome and POI can lead healthy, fulfilling lives.