Turner Syndrome

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Turner syndrome (TS), also known as Ullrich-Turner syndrome, is a rare chromosomal condition that affects females only. It occurs when one of the two X chromosomes is missing or partially missing.

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How Common Is Turner Syndrome?

Turner syndrome affects about 1 in 2,000 female births worldwide.

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What causes Turner Syndrome?

Turner syndrome is caused by a missing or altered X chromosome.

Typically, females have two X chromosomes (XX), but in Turner syndrome:

• About 50% have only one X chromosome (monosomy X).

• Some have one complete X chromosome and one partially missing or rearranged X chromosome.

• Others have Mosaic Turner syndrome, meaning only some cells lack the second X chromosome.

Most cases occur randomly during cell division in the egg or sperm and are not inherited. Rarely, the condition can be passed from a parent if part of the X chromosome is deleted.

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What are the symptoms and features of Turners Syndrome?

Before Birth

Turner syndrome can sometimes be detected during pregnancy through prenatal screening (cell-free DNA testing) ultrasound, which may show:

• Fluid buildup on the back of the neck or other areas (edema)

• Heart abnormalities

• Abnormal kidney structure

• At Birth or Infancy

• Newborns may show:

• A wide or webbed neck

• Low-set ears

• Broad chest with widely spaced nipples

• Swelling (lymphedema) of the hands and feet

• Shorter than average length

• Low hairline at the back of the neck

• Small or receding jaw

• Heart defects

• Short fingers and toes

During childhood and adulthood the most common features are:

• Short stature

• Ovarian insufficiency

• Delayed or absent puberty

• Early end of menstrual cycles

• Infertility (most cannot conceive without fertility treatment)

• Other possible features include:

• Narrow, high-arched palate

• Curved spine (scoliosis)

• Puffy hands and feet

• Low hairline

• Outward-turning arms at the elbows

• Learning difficulties with spatial or mathematical reasoning (though intelligence is typically normal)

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Health Complications

Turner syndrome can affect several organs and systems:

• Heart: Congenital heart defects (e.g., coarctation of the aorta or abnormal aortic valve), which may be life-threatening if untreated.

• Kidneys: Structural abnormalities that can cause infections or high blood pressure.

• Thyroid: Increased risk of hypothyroidism (under active thyroid).

• Bones: Increased risk of osteoporosis (weakened bones).

• Ears and hearing: Recurrent ear infections and hearing loss.

• Vision: Possible vision problems.

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Diagnosis

Turner syndrome can be diagnosed during pregnancy, if abnormalities are seen on ultrasound or prenatal screening (confirmed with chorionic villus sampling or amniocentesis).

The syndrome can also be diagnosed after birth or in childhood, when physical features or slow growth are noticed.

Diagnosis is confirmed with a blood test called a karyotype, which examines the chromosomes.

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Treatment and Management

There is no cure, but treatment focuses on managing symptoms and supporting healthy development. treatment usually involves a multidisciplinary team, including endocrinologists, cardiologists, and genetic specialists.

Common treatments include:

• Growth hormone therapy.

• Estrogen and progesterone therapy.

• Fertility treatments.

• Counselling or support groups.

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Support and Resources

You are not alone. There are organisations that provide information and support for people with Turner syndrome and their families:

Turner Syndrome Support Society (TSSS) – www.tss.org.uk

National Organization for Rare Disorders (NORD) – www.rarediseases.org