Turner Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Turner syndrome is a condition when one of the X chromosomes (sex chromosomes) is missing or only partially present. This syndrome only affects women.
This syndrome can cause a variety of medical and developmental problems, including short stature, failure to develop the ovaries, or heart defects.
Turner syndrome can be diagnosed before birth (prenatal) or during childhood. Occasionally, in women with mild signs and symptoms of Turner syndrome, a new diagnosis may be made in their teens or young adults.
Women with Turner syndrome need medical care from several fields of medicine.
Regular check-ups and proper care can help them lead healthy and independent lives.
Turner Syndrome Symptoms
Signs and symptoms of Turner syndrome are quite varied. For some sufferers, Turner syndrome does not always appear as a specific symptom.
However, for some others, various physical characteristics and less-than-optimal growth can be recognized at an early age.
Signs and symptoms that can appear during pregnancy, as detected during an ultrasound of pregnancy, are:
- Fluid buildup on the back or neck
- Heart deformity
- Kidney deformity
The characteristics of people with Turner syndrome that can appear at birth or in infancy are:
- Wide neck
- Ears with a lower position than normal
- Wide chest with wide nipples
- The roof of the mouth is high and narrow
- Short fingers and toes
- Narrow fingernails and toenails
- Growth that is not optimal
- Swelling of the hands and feet, especially at birth
- Heart disorder
- Small lower jaw
Signs and symptoms of Turner syndrome that may appear in childhood, adolescence, or adulthood are:
- Growth that is not optimal
- Height in adulthood is low compared to other female family members
- There is no change in sexual characteristics that generally occurs during puberty
- Menstrual cycles that stop more quickly but not as a result of pregnancy
- For some women, the condition makes it impossible to get pregnant without treatment in the field of fertility
Turner Syndrome Reason
Every human being is born with two sex chromosomes. Boys get an X chromosome from their mother and a Y chromosome from their father.
Meanwhile, women get one X chromosome from their mother and one X chromosome from their father.
In girls with Turner syndrome, one of the X chromosomes is either missing completely, partially missing or has an abnormality.
The absence of the X chromosome or the presence of an abnormality on the X chromosome occurs randomly.
Sometimes, this is caused by an abnormality in the sperm or egg cells. However, in other conditions, this can also occur in the early stages of fetal development.
Risk Factors
Turner syndrome only occurs in baby girls with a very rare ratio, namely 1:2,500 babies.
This condition can occur to anyone and has nothing to do with the mother’s condition during pregnancy and is not passed down from the family.
Until now, there are no known factors that can increase the risk of Turner syndrome.
Turner Syndrome Diagnosis
Examination to establish a diagnosis of Turner syndrome can be started during pregnancy in two ways, namely:
- Chorionic villus sampling, which involves taking tissue from the placenta
- Amniocentesis, which involves taking amniotic fluid from the uterus
If the doctor suspects that a child has Turner syndrome based on the signs and symptoms they are experiencing, the patient will be advised to undergo laboratory tests to evaluate the chromosomes further.
Examinations that can be done involve taking a blood sample. Sometimes samples will also be taken from the inside of the oral cavity or from the skin.
Chromosome analysis will determine the absence or abnormality of one of the X chromosomes.
Sometimes, the diagnosis of Turner syndrome can be made during pregnancy.
Certain ultrasound findings may raise suspicion of Turner syndrome or another genetic condition in the fetus that affects its growth in the uterus.
In addition, the doctor will perform a heart examination with electrocardiography, echocardiography, or cardiac MRI to see the condition of the heart.
Other supporting examinations, such as X-rays are also needed to see if there is a disturbance in the bones by looking at the condition of the child’s bone density.
Vision and hearing tests should also be performed to detect abnormalities in vision and hearing function.
Turner Syndrome Treatment
Until now, there are no drugs that can cure Turner syndrome. However, there are already various therapies to relieve the symptoms that appear.
Because the signs and symptoms that occur are quite varied, treatment is aimed at overcoming the symptoms experienced by these patients.
The main goal for almost all women with Turner syndrome is hormone therapy, which includes:
1. Growth hormone
For the majority of women with this condition, growth hormone therapy is recommended to increase the maximum possible height at appropriate times in early childhood and early adolescence.
Growth hormone injections are usually given somatropin and injected every day from the age of 5 to 16 years.
2. Estrogen therapy
Most girls with Turner syndrome will need estrogen and related hormone therapy to start puberty. Often, estrogen therapy is started at the age of 11 or 12 years.
Estrogen can help breast growth and increase the volume of the uterus. In addition, estrogen also supports the process of bone mineralization.
3. Treat progesterone
Progesterone injections are given at the same time as or after estrogen therapy. The goal is to trigger the patient’s first menstruation.
4. IVF
The IVF method can be used to help people with Turner syndrome with fertility problems who want to program children.
The obstetrician will help and monitor to minimize complications for the mother and fetus.
5. Psychotherapy
If sufferers experience anxiety, depression, or low self-esteem about their condition, psychotherapy can help overcome these conditions with counseling and cognitive behavioral therapy.
Other treatments that can be given depend on the complaints experienced by a patient.
Routine control is highly recommended to support the health and quality of life for women with Turner syndrome.
Prevention
Turner syndrome is a genetic disorder that cannot be prevented during pregnancy, considering that it occurs due to the loss of the X chromosome in the parent’s sperm or egg.
However, Turner Syndrome can be detected during pregnancy.
Therefore, mothers should carry out routine pregnancy control because early detection and immediate treatment can prevent the child from being at risk of complications and the child can live a normal life.
Complications
Patients with turner syndrome can experience different complications, including:
- Diabetes
- High blood pressure
- Abnormalities of the heart and blood vessels
- Psychiatric disorders
- Learning disorders
- Disorders of bone growth and development
- Hearing impairment
- Visual impairment
- Fertility disorders