Turner syndrome is a genetic condition that affects only females. This chromosomal disorder occurs when one of the two X chromosomes is partially or completely missing or changed in some way.

Girls and women with Turner syndrome can have a number of problems with normal human development as well as a higher risk of certain medical problems.

Some of the physical characteristics of Turner syndrome include short stature, heart defects, delayed puberty, and infertility. However, with proper medical care from a team of specialists, people with this genetic disorder can live healthy, independent lives.

Other names for Turner syndrome are 45, X, monosomy X, Turner’s syndrome, and Ullrich-Turner syndrome.

Understanding the Chromosomal Abnormality

Humans have 23 pairs of chromosomes (a total of 46), which contain our DNA (genetic material). Of these, 22 pairs are autosomes that are the same in males and females. The 23rd pair are two sex chromosomes, XX in females and XY in males. Females get one X chromosome from each parent. Males get one X chromosome from their mother and one Y chromosome from their father.

In people with Turner syndrome, one copy of the X chromosome is partially missing, completely missing, or changed in some way. This causes problems with the baby’s development during pregnancy as well as developmental and medical problems after birth. The extent of problems associated with Turner’s syndrome can vary greatly from person to person. Researchers have found those with changes in the SHOX gene are more likely to have short stature, hearing impairments, and skeletal abnormalities.

Historical Background and Discovery

Turner syndrome is named after Dr. Henry Turner, an endocrinologist and researcher from Oklahoma City, who discovered the condition in 1938. During his career, Dr. Turner came across many females with similar characteristics, such as a short stature, webbed neck, and lack of sexual development, that could not be explained by any existing syndrome. He wrote a paper in which he categorized these symptoms as a new disorder. This was later named Turner syndrome.

Prevalence and Demographics

According to the Turner Syndrome Society of the United States (TSSUS), Turner syndrome is diagnosed in about 1 in 2,000 to 4,000 female newborns in the U.S.

However, this genetic condition is much more common in unborn babies that do not survive (miscarriages and stillbirths). About 15% of confirmed pregnancies that end in a miscarriage are found to be babies with Turner’s syndrome.

Symptoms of Turner Syndrome

Signs and symptoms of Turner syndrome can vary greatly from person to person. In some females, the physical features are obvious, leading to an early diagnosis during infancy or early childhood. In others with more subtle changes, the affected female may be a teenager or young adult before doctors diagnose Turner syndrome.

Signs of Turner Syndrome in the Developing Fetus

Signs of Turner syndrome in an unborn baby seen on prenatal ultrasound may include:

Edema (fluid collection) at the back of the neck.
Cystic hygroma (fluid-filled sac in the head and neck area).
Kidney abnormalities.
Heart defects.

Common Physical Features of Turner’s Syndrome in Infancy and Early Childhood

Physical features of Turner syndrome that are seen in infancy or early childhood include:

Slightly shorter than average length at birth.
Webbed neck (folds of skin on the neck).
Low hairline on the back of the neck.
Low-set ears.
Small or receding jaw.
High and narrow palate (roof of the mouth).
Teeth problems.
Widely spaced nipples on a broad chest.
Outward-turned arms at the elbows (cubitus valgus).
Swollen hands and feet, especially at birth (congenital lymphedema).
Short fingers and toes.
Narrow and upturned or spoon-shaped fingernails and toenails.
Multiple moles on the body.

Symptoms of Turner Syndrome in Childhood, Adolescence, and Adulthood

Turner syndrome females have one or more of the following signs and symptoms:

Note: There are case reports of male Turner syndrome, but this is much less frequent and is not considered related to the female counterpart.

Other Health Problems and Complications

Sex chromosome abnormalities like Turner syndrome can have widespread effects on human development. The extent of these effects varies. For example, a female with only one X chromosome may have more severe developmental and medical problems compared to a female with mosaic Turner syndrome where only some cells have a changed or missing X chromosome.

Some of the complications seen in people with Turner syndrome include:

Heart defects, including problems with the aorta (the large blood vessel that carries blood from the heart to the rest of the body).
Hypertension (high blood pressure) and an increased risk of cardiovascular disease.
Frequent otitis media (middle ear infections) and hearing loss.
Vision problems, including myopia (nearsightedness), strabismus (crossed eyes), red-green color blindness, and other eye problems.
Kidney malformations and an increased risk of urinary tract infections.
Increased risk of diabetes.
Skeletal disorders, such as a higher risk of abnormal curvature of the spine (scoliosis or kyphosis) and osteoporosis (weak, brittle bones).
Autoimmune diseases such as Hashimoto’s thyroiditis and hypothyroidism (underactive thyroid), celiac disease (gluten intolerance), or inflammatory bowel disease (IBD).
Learning disabilities, including problems with memory, attention, and spatial concepts. However, people with Turner syndrome typically have normal intelligence.
Mental health problems, such as low self-esteem, social anxiety, and depression.
Attention-deficit/hyperactivity disorder: ADHD is one of the potential complications of Turner syndrome.
Reproductive health: Most women with Turner syndrome are infertile. A very small number are able to get pregnant spontaneously. Some can get pregnant with fertility treatments.
Pregnancy complications: Pregnant women with Turner syndrome are at a higher risk of pregnancy complications such as eclampsia (high blood pressure), aortic dissection, and spontaneous abortion. They require care from a cardiologist (heart specialist) and maternal-fetal medicine specialist (a doctor who specializes in high-risk pregnancies).

Causes and Genetics of Turner Syndrome

Chromosomal Anomalies

The chromosomal abnormalities in people with Turner syndrome can include:

Monosomy where there is complete absence of one X chromosome in every cell in the body.
X chromosome changes where parts of one X chromosome are changed or missing in all the cells in the body, so there is one complete and one altered X chromosome.
Mosaicism is where some cells in the body have two complete X chromosomes, and others have only one X chromosome or changes in one X chromosome.
Y chromosome material where some cells in the body have Y chromosome material. While these people with Turner syndrome develop biologically as females, the Y chromosome material increases their risk of developing gonadoblastoma (a type of cancer of the gonads).

Genetic Risk Factors and Inheritance Pattern

Turner syndrome occurs due to the loss of one X chromosome or changes in the X chromosome. Therefore, it is a genetic disorder. However, it is not an inherited disorder and does not run in families.

The changes in the X chromosome occur due to problems with the parent’s reproductive cells (egg or sperm) or during early cell division and fetal development. The presence of atypical reproductive cells contributes to the genetic makeup of the affected child only. This is a random error (chance happening) called a sporadic chromosomal nondisjunction.

A family history of Turner syndrome is not a risk factor for the disorder. It’s a random genetic change in the affected child only. Future children of parents who have one child with Turner syndrome are not at an increased risk.

Diagnosis and Testing for Turner Syndrome

Turner syndrome can be diagnosed prenatally (before birth) or during infancy or early childhood. In some girls with mild symptoms, the condition goes undiagnosed until the teen years or early adulthood.

Prenatal Testing Options

Prenatal ultrasound features such as swelling (edema) at the back of the neck, kidney abnormalities, or heart defects can raise suspicion for Turner syndrome or some other genetic condition.
Cell-free fetal DNA. Noninvasive prenatal testing for Turner syndrome can be done prenatally (before birth) by evaluating the developing baby’s DNA. This test can be done as early as 10 weeks of pregnancy and is called prenatal cell-free fetal DNA (cfDNA) screening. It is a noninvasive prenatal test that is done on the mother’s blood sample.
Chorionic villus sampling is a prenatal test that can be done between 11 and 14 weeks of pregnancy. The OB/GYN takes a small sample of placental tissue, which contains the baby’s genetic material. This sample is tested in a genetics lab to look for chromosomal abnormalities.
Amniocentesis is done after 14 weeks of pregnancy. This test involves taking a sample of amniotic fluid, which contains cells shed by the baby. The amniotic fluid is tested in a genetics lab to look for changes in the baby’s chromosomes.

Postnatal Diagnostic Methods

Karyotyping (chromosome analysis) is the most accurate way of having Turner syndrome diagnosed. This is a blood test, but it can occasionally be done on a buccal smear (cheek scraping) or skin sample. Karyotype has 99.9% accuracy in diagnosing Turner syndrome.

Once a diagnosis of Turner’s syndrome is confirmed, other diagnostic tests will depend on the person’s health problems. For example, thyroid function tests may be done to diagnose thyroid issues.

Differential Diagnosis: What Can Turner Syndrome Look Like?

Many of the clinical features of Turner syndrome resemble another genetic disorder called Noonan syndrome, such as short stature, a webbed neck, and swollen hands and feet. However, people with Noonan syndrome have a normal karyotype. Noonan syndrome occurs due to mutations (changes) in certain genes that are responsible for human development and growth. It is an inherited autosomal dominant genetic disorder. This means that if only one parent has a copy of the faulty genes, they can pass it on to their children, and each child has a 50% chance of being born with Noonan syndrome.

Management and Treatment of Turner Syndrome

Hormone Therapy

Growth Hormone Treatment: Daily injections of recombinant human growth hormone, starting in early childhood and continuing up to the early teens, can correct the growth deficiency. This can improve bone growth and help people with Turner syndrome gain as much height as possible.

Estrogen Replacement Therapy: Females with Turner syndrome do not typically have spontaneous pubertal development and require estrogen replacement therapy to trigger puberty. Estrogen therapy is usually started at 11-12 years of age to support breast development, increase uterus volume, and improve bone mineralization. It can also help with height gain (in combination with growth hormone treatment). People with Turner syndrome may need to continue with estrogen replacement therapy throughout life until menopause.

Lifestyle and Supportive Therapies

In addition to growth hormone therapy and sex hormone replacement therapy, other treatments for Turner syndrome depend on clinical practice guidelines for specific health problems. For example, someone with Turner syndrome may need treatment from an endocrinologist for thyroid disease or care from a mental health professional for anxiety and depression.

Long-Term Care and Surveillance

Most people with Turner syndrome require regular health checkups and care from multiple specialists, including:

Geneticist (medical genetics)
Endocrinologist (hormone disorders)
Cardiologist (heart specialist)
Gynecologist (women’s health)
Orthopedist (skeletal disorders)
Urologist (urinary disorders)
ENT (ear, nose, and throat specialist)
Gastroenterologist (digestive conditions)
Ophthalmologist (eye doctor)
Audiologist (hearing problems)
Reproductive endocrinologist (fertility problems)
Psychologist or psychiatrist
Special education instructors
Developmental therapists
Specialists in neuropsychological child health

Impact on Quality of Life and Support Resources

Coping with Challenges and Symptoms

Here are some tips for parents of girls with Turner syndrome to help them develop life skills and cope with challenging situations.

Educate yourself on Turner syndrome and share this information with your relatives and friends as and when your daughter feels comfortable.
Treat the child according to her age rather than her size. Give her responsibilities and encourage social activities accordingly.
Make modifications to your home, such as footstools in the bedroom, bathroom, and kitchen, for easier access to necessities. Chairs and stools with footrests are useful as feet can get easily tired when they don’t reach the floor.
Work with her teachers to modify the classroom and make other accommodations at school.
Encourage her to ask for help or discuss her fears if she is having trouble coping.
Be positive and patient. Compliment her strengths. Help her develop coping skills.
Encourage participation in activities and jobs where height isn’t important, such as diving, skating, horseback riding, babysitting, and volunteering.
Consider mental health counseling from a professional for self-esteem issues, anxiety, or depression.

Educational and Community Resources

National Library of Medicine
National Human Genome Research Institute
Endocrine Society toolkits
Guidelines from the Turner Syndrome Study Group
National Organization for Rare Diseases (NORD)
Turner Syndrome Society of the United States (TSSUS)
Turner Syndrome Foundation (TSF)

FAQs on Turner Syndrome

How Does Turner's Syndrome Affect A Person's Life?

Turner syndrome can affect many aspects of a person’s life, including physical appearance and an increased risk of numerous health problems. Care from a multidisciplinary team of healthcare providers can help people with Turner’s syndrome live healthy, productive lives.

What Are 5 Symptoms of Turner Syndrome?

Five symptoms of Turner syndrome include:

Short stature
Webbed neck and low-set ears
Low hairline on the back of the neck
Arms turned outward at the elbows
A broad chest with the nipple wide apart

What Does A Female With Turner Syndrome Look Like?

A female with Turner syndrome may have a short stature with a webbed neck, a low hairline at the back of the neck, low-set ears, short fingers and toes, arms turned out at the elbows, and a broad chest with widely spaced nipples.

Do Girls With Turner Syndrome Have Periods?

No, girls with Turner syndrome typically don't have menstrual periods, or they have very light periods. The amenorrhea (lack of menstrual periods) occurs because Turner syndrome affects the development of the ovary. Ovarian function is responsible for producing female hormones that control menstruation.

Can Women With Turner Syndrome Get Pregnant?

Most women with Turner syndrome are infertile and cannot get pregnant. However, some are able to spontaneously become pregnant, while others are able to get pregnant with fertility treatments. If a pregnancy does occur, the risk of pregnancy complications is high. Women with Turner syndrome who are pregnant require care from a maternal-fetal medicine specialist (a doctor who specializes in high-risk pregnancies).

Do Babies With Turner Syndrome Survive?

Yes, most babies (live births) with Turner syndrome survive and, with proper medical care, can live relatively normal lives. However, a large number of pregnancies with Turner’s babies do not survive and result in miscarriage or stillbirth.

What Is The Survival Rate of Turner Syndrome Pregnancy?

Only 1-3% of Turner syndrome pregnancies survive and result in live births. In other words, only 1-3 in 100 fetuses (developing babies) with Turner syndrome survive through the pregnancy.

Can a Person with Turner Syndrome Have a Normal Baby?

Spontaneous conception, pregnancy, and delivery in females with Turner syndrome are rare. Most people with Turner syndrome are infertile. Some can become pregnant with fertility treatment. Because of the high risk of pregnancy complications, in the past, all Turner syndrome cases were advised to avoid pregnancy entirely. However, more recently, some women with Turner syndrome have been able to become pregnant and deliver healthy infants.

What Is The Life Expectancy of a Girl With Turner Syndrome?

The life expectancy of a girl with Turner syndrome might be slightly shorter. This is because people with Turner syndrome (TS) are at risk of a number of health problems, including congenital heart defects like aortic coarctation or bicuspid aortic valve, kidney malformations, heart disease, hearing loss, vision problems, skeletal disorders, autoimmune disorders, and pregnancy complications. However, timely diagnosis and early intervention for health conditions associated with Turner syndrome can help people with TS have a normal lifespan.

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