Turner Syndrome In Children: Symptoms And Causes

Turner syndrome in children is a genetic disorder caused by a chromosomal abnormality in one of the X chromosomes. Turner syndrome only affects females, and its symptoms vary in each case. However, short stature and premature ovarian failure are its most prominent features.

Turner syndrome is detected in around one in 2000 to 2500 live female births. However, the exact prevalence is unknown because milder phenotypes may be diagnosed only later in life or, at times, go undiagnosed (1).

Read this post to know more about the causes, signs, symptoms, risk factors, complications, diagnosis, and treatment for Turner syndrome in children.

Signs And Symptoms Of Turner Syndrome

Girls with Turner syndrome can have mild to serious symptoms. Although some may have female sex characteristics such as breast development and wider hips, they may be underdeveloped compared to healthy females. Additionally, some girls with the mild phenotype may not show any symptoms until adulthood (2).

The following symptoms are usually seen in Turner syndrome (2) (3):

• Swollen hands and feet at birth and soft nails turned upward.
• Developmental delays
• Short and webbed neck
• Low hairline at the back of the neck
• Low set ears
• Short stature with an average height of 4 feet 8 inches without treatment
• Delayed puberty or pubertal growth spurts
• Absent or improperly functioning ovaries
• No breast development
• Cardiovascular problems and high blood pressure
• Abnormal structure or function of the kidneys
• Hypothyroidism or underactive thyroid gland functions
• Type 2 diabetes
• Cognitive problems such as issues with learning mathematics, nonverbal memory, right-left orientation, directional sense, and visual-spatial coordination
• Bone fractures due to osteoporosis (brittle bones)

Although learning difficulties are seen, the level of intelligence is normal in girls with Turner syndrome. Some of these symptoms are also present in other medical conditions. Hence, seek medical care and testing for an exact diagnosis.

Risk Factors And Causes Of Turner Syndrome

Humans have two sex chromosomes—X and Y. Boys get an X chromosome from their mother and a Y chromosome from their father, whereas girls get X chromosomes from both parents. In Turner syndrome, one of the X chromosomes in girls may be altered or missing partially or completely (2).

The following genetic changes of sex chromosomes cause Turner syndrome (2) (4):

• Monosomy is the absence of one X chromosome due to issues in the sperm or ovum. It may cause every cell in the body to have only one X chromosome.

• Mosaicism is an error during cell division in early fetal development resulting in only one X chromosome in some cells. However, a few cells may have two X chromosome copies.

• Abnormalities of the X chromosome, such as abnormal or missing parts in one X chromosome, can be seen in some cases of Turner syndrome. One complete X chromosome and one altered X chromosome may appear in all the cells if the altered copy is inherited from the sperm or ovum (monosomy). However, it may affect only a few cells if the alterations happen during fetal development (mosaicism).

• Y chromosome material can be seen in a few cases, where some cells may have one copy of the X chromosome, and others may have one X chromosome with some Y chromosome material. It can cause underdeveloped gonads and increase the risk of certain cancers or tumors of the gonads, such as gonadoblastoma.

Usually, these changes occur spontaneously (at random) during fetal development or due to problems in the sperm or ovum. Family history is not a risk factor for Turner syndrome since the disorder is not inherited, and it is unlikely that parents may have another child with the same disorder.

Complications Of Turner Syndrome

The development of several body systems can be affected by Turner syndrome. The common complications may include (4).

• Heart problems, such as congenital heart defects and defects of the aorta, the main artery supplying blood

• High blood pressure, which may increase the risk of blood vessel and heart diseases

• Increased risk of urinary tract infections (UTIs), which may affect the kidneys and cause high blood pressure

• Skeletal problems, such as scoliosis (abnormal spine curvature) and kyphosis (front-to-back curve of the upper spine) and an increased risk of osteoporosis due to abnormal growth and development of the bones and hormonal issues

• Hearing loss due to frequent middle ear infections or gradual loss in nerve function

• Vision problems, such as strabismus (weak eye muscle control) and myopia (nearsightedness)

• Autoimmune disorders, such as inflammatory bowel diseases, celiac disease (gluten intolerance), Hashimoto thyroiditis (underactive or hypothyroid), and diabetes

• Mental health issues, such as attention-deficit/hyperactivity disorder (ADHD) and difficulty in handling social situations

Turner syndrome can also cause infertility in many women. A few women with Turner syndrome become pregnant naturally, while others may need fertility treatments. Pregnancy complications such as high blood pressure and aortic dissection are also observed.

Diagnosis Of Turner Syndrome In Children

The following prenatal tests may help diagnose Turner syndrome during fetal development (5):

• Maternal serum screening
• Amniocentesis and chorionic villus sampling
• Prenatal ultrasound

Girls with short stature (shorter than the average heights of the parents) and amenorrhea (absence of menstruation) are referred for karyotyping (chromosomal analysis of a blood sample) to confirm the diagnosis.

The following tests are ordered for girls with Turner syndrome to look for complications (1) (6):

• Eye examinations to evaluate vision and the alignment of eyes (strabismus) from infancy

• Barlow/Ortolani maneuvers to assess congenital hip dislocation in infants

• Kidney ultrasonography to assess congenital renal anomalies

• Blood tests determine the hormonal levels, such as elevated levels of the follicular stimulating hormone (FSH) and anti-Mullerian hormone (AMH), and help predict ovarian failure or dysfunction

• Tissue transglutaminase immunoglobulin A screening every year for girls older than four years to identify celiac disease

• Orthodontic evaluations for tooth abnormalities and malocclusions (crooked teeth or poor bite) from seven years

• Scoliosis and kyphosis monitoring in teenagers

• Frequent audiometry and hearing tests due to the increased risk of conductive hearing loss from otitis media and sensorineural hearing loss

• Blood pressure measurement in all extremities

• Liver function tests, including liver enzymes

• Thyroid function tests

• Fasting glucose and lipid profile

• Ovarian ultrasound and other reproductive health assessments in puberty and later

Some cases may not be identified before birth, and the diagnosis is made soon after birth or during early childhood. In rare cases, where girls begin menstruation at puberty, Turner syndrome is diagnosed in adulthood, usually due to early menopause caused by ovarian failure. However, the diagnosis may vary depending on the severity of the symptoms.

Treatment For Turner Syndrome In Children

There is no cure for Turner syndrome, but the existing therapies can improve physical development in some girls. In addition, appropriate medical care allows girls with Turner syndrome to have a better life and have children in the future with assisted reproductive technologies (ART).

The following treatments are given to minimize the symptoms of Turner syndrome in children (7):

• Growth hormone injections can increase the height by a few inches if administered in early childhood. However, at age 14, growth hormone therapy is discontinued.

• Estrogen replacement therapy (ERT) helps initiate puberty, as estrogen helps develop secondary sexual characteristics such as breasts and wider hips and prevents bone loss. It is often combined with progesterone and administered if puberty is delayed and menstruation does not begin by age 15. ERT is continued lifelong.

Regular health checks and appropriate treatment are given to prevent and manage conditions associated with Turner syndrome, such as thyroid problems, heart problems, blood pressure, and ear infections, to prevent complications.

Prevention Of Turner Syndrome

Turner syndrome cannot be prevented since it is a congenital disorder that occurs due to random chromosome errors. Genetic counseling of parents is also not beneficial since this condition is not inherited. In addition, women with Turner syndrome are not at risk of having a baby with this condition (5).

The physical characteristics, complications, and outcomes of Turner syndrome may vary in each girl based on the severity of genetic changes. Regular follow-up and tests for possible complications help identify and treat the conditions on time. Further, lifelong estrogen therapies and other interventions can help girls with Turner syndrome have a better quality of life.

References

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