What Is Turner Syndrome?

Turner syndrome is a medical condition arising exclusively in females that results from a sex-linked genetic aberration. Women typically have two X chromosomes; females with Turner syndrome are missing part or all of one of those chromosomes. Other names for this condition are monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome. Turner syndrome is associated with a variety of developmental issues and can lead to serious medical complications. Fortunately, the symptoms of Turner syndrome can be successfully managed, if properly diagnosed and addressed. 

Turner syndrome is one of the most common genetic disorders in women. To learn more about Turner syndrome, including ways to identify and manage symptoms, turn to the women’s health team at Baptist Health.

What Are the Symptoms of Turner Syndrome?

There is considerable variation in Turner syndrome symptoms, both among individuals and over time. 

Symptoms in Infancy

• Droopy eyelids
• Low-set ears
• Low hairline
• High palate
• Receding jaw
• Thick or squat neck
• Unusually broad chest
• Swollen toes and fingers
• Flat feet
• Slow growth

Symptoms in Child and Adulthood

• Short stature and continued slow growth
• Delayed puberty
• Early end to menstrual cycles
• Infertility

Women with Turner syndrome have an increased chance of developing a number of medical complications, including hypertension, heart problems, kidney deficiencies, hearing and vision issues, skeletal defects, autoimmune conditions, learning disabilities, and mental health concerns.

What Causes Turner Syndrome? 

Scientists have yet to determine what drives the genetic aberration behind Turner syndrome but it often manifests in one of the following ways:

• Monosomy: An entire X chromosome is missing, due to a genetic abnormality in either the mother’s egg or the father’s sperm. 
• Mosaicism: Errors in cell replication early in fetal development lead to some cells missing an X chromosome. 
• X chromosome abnormality: An X chromosome abnormality results in cells with one complete X chromosome and one partial or missing X chromosome. 
• Y chromosome abnormality: In rare cases, some Y chromosomal material gets mixed in with a single X chromosome. The fetus develops as female but carries with it a heightened risk of developing gonadoblastoma, a cancer of the sex cells. 

The risk factors for Turner syndrome are largely unidentified. It does not appear to be linked to family medical history. At this time, the partial or complete loss of an X chromosome is thought to be a random event. 

How Is Turner Syndrome Diagnosed?

Turner syndrome is commonly diagnosed by means of prenatal testing. If an ultrasound exam indicates a possible developmental issue, your physician may order a karyotyping procedure. This involves obtaining a sample of your infant’s genetic material, from which photographic representations of the chromosomes are made. These can be compared with the chromosomes in a healthy developmental model. There are several avenues for collecting the genetic data, including:

• Amniocentesis: This is the needle extraction of a sample of the amniotic fluid in which the infant rests. 
• Blood sample: The mother’s blood will often contain evidence of a missing or partially missing X chromosome in her child. 
• Chorionic villus sampling (CVS): This is a process for collecting a tissue sample from the placenta.

Prenatal Symptoms for Baby

• Fluid buildup in bodily cavities (edema)
• Malformed kidneys
• Heart abnormalities

Diagnosing Turner syndrome after birth utilizes hormone, blood sugar, and/or thyroid-function tests.

How Is Turner Syndrome Treated?

There is no cure for Turner syndrome so treatment focuses on helping individuals cope with potential medical complications. Two other steps that can be taken are:

• Growth-hormone injections: Since being undersized is one common characteristic of Turner syndrome, growth hormone injections can help compensate for the lack of regular growth spurts. 
• Estrogen therapy: Estrogen therapy can help women with Turner syndrome achieve normal sexual development. Therapy begins at puberty and continues until menopause. 

Most women with Turner syndrome require fertility treatments to conceive and carry a child to term. 

Can Turner Syndrome be Prevented?

Without a better understanding of the genetic factors underlying Turner syndrome, there is no means of preventing its occurrence. When properly diagnosed and treated, however, women with Turner syndrome can lead healthy and fulfilling lives.

Learn More About Turner Syndrome from Baptist Health

For more information about Turner syndrome diagnosis and treatment, or to schedule an appointment with our physicians, begin with a primary care physician such as a pediatrician for a child or an internist for an adult. Our provider directory can help you find a provider in your area.