Turner Syndrome - Features and Treatment

Introduction:

Turner syndrome occurs as a result of chromosomal abnormality. An average person usually has 46 chromosomes in each cell, divided into 23 pairs, including two sex chromosomes (22A+XX or XY), half of which are inherited from the father and the other half from the mother. Each chromosome contains genes that determine an individual's characteristics, such as skin and eye color, height, and facial features. In addition, girls typically have two X chromosomes (or XX), but girls with Turner syndrome have only one X chromosome or are missing part of one X chromosome. A person with Turner syndrome usually has a shorter life expectancy; however, timely diagnosis and treatment of the health condition can lead to a normal lifespan.

Why Does Turner Syndrome Occur?

Turner syndrome is not caused intentionally by anything the parents did or did not do. Instead, the disorder is a random error in cell division when a parent's reproductive cells are being formed. Girls born with the X condition have mosaic Turner syndrome in only some of their cells. As a result, their signs and symptoms appear milder than those with non-mosaic Turner syndrome.

What Are the Symptoms of Turner Syndrome?

The clinical manifestations of Turner syndrome include the following:

• Webbing of the skin of the neck.

• The hairline is reduced at the back of the head.

• The ears are low-set.

• Drooping of the eyelids.

• Altered bone development, especially of the upper extremities

• Erratic or no periods (amenorrhea).

• More extensive than the usual number of moles on the skin.

• The absence of some or all of the secondary sexual characteristics that are typically seen in puberty.

• Infertile as adults.

Other health conditions include:

• Kidney and heart problems.

• High blood pressure.

• Obesity.

• Diabetes mellitus.

• Thyroid problems.

• Ear infections with decreased hearing.

• They have impaired bone development.

Females diagnosed with Turner syndrome are of reduced stature than their peers, with additional signs and symptoms mentioned above.

What Are the Diagnostic Tests for Turner Syndrome?

• Physical Features: Firstly, the physical features of Turner syndrome are examined if one is suspected of having it, which can vary widely. Some exhibit many characteristics or symptoms, while others show only a few. Doctors may also use a blood test that looks at chromosomes to diagnose Turner syndrome, called a karyotype test (chromosomal analysis).

• Microarray Testing: Turner syndrome may show only one X chromosome instead of two, with 45 chromosomes instead of the usual 46 or two X chromosomes detected, but one is missing a piece. The condition may be discovered through non-invasive prenatal testing (NIPT), done in the amniotic fluid or tissue from the placenta or the mother’s blood. However, these tests are not definitive for the diagnosis of Turner syndrome. After birth, doctors can diagnose this syndrome with a karyotype or microarray test report of the baby.

• Maternal Serum Screening: This is done by drawing blood from the mother to check for signs showing an increased chance of fetal chromosomal aberrancy, which is more commonly performed in pregnant women of older age groups.

• Amniocentesis and Chorionic Villus Sampling: This may be done to check the amniotic fluid or tissue from the placenta. This process is done by performing a karyotype analysis on the amniotic fluid or tissue from which the results could conclude a diagnosis of Turner syndrome.

• Ultrasonographic Studies During Pregnancy: This may show that the baby has some features of Turner syndrome, such as cardiac problems or fluid accumulation around the neck region.

A diagnosis could be made soon after birth or early childhood, ruling out the symptoms. However, many cases are not diagnosed until adulthood. Women with this syndrome may go through puberty and get their menstrual period but often have early ovarian failure or early menopause.

How Is Turner Syndrome Treated?

• Turner syndrome is a chromosomal disorder, and thus, there is no cure for the condition. However, several treatment modalities are in vogue with the recent advances in medical technology, including hormonal therapy and in vitro fertilization, which can help women with this condition.

• The use of hormone therapy may increase final adult height to the normal range if treatment is started early enough. The United States Food and Drug Administration (FDA) approved the application of growth hormones to treat Turner syndrome.

• Estrogen and progesterone (female sex hormones) replacement therapy often begins at age 12 or 13 to stimulate secondary sexual characteristics such as breast development and menstruation, which does not reverse infertility.

• Cardiac surgeries may be necessary to correct specific heart defects associated with Turner syndrome.

• High blood pressure (hypertension) is also common in women with Turner syndrome, which is often related to underlying kidney or heart problems. Therefore, regular monitoring and treatment of blood pressure is also important.

• In vitro fertilization technologies can help women with Turner syndrome achieve pregnancy, where fertilized donor eggs are used to create embryos, which can be inserted into a woman's uterus with Turner syndrome. Hormone therapies help such women carry a developing fetus to term.

What Are the Learning Difficulties Seen In Turner Syndrome?

• Females with Turner syndrome usually have average intelligence, but some may exhibit learning disabilities, particularly in math and science.

• Spatiotemporal skills, such as map reading or visual organization, are impaired in several cases.

• Some may have hearing problems but are not at increased risk for major psychological problems.

• Some girls have issues with body image or self-esteem, and some might also have Attention Deficit Hyperactivity Disorder (ADHD). Despite these physical differences and other issues, with the proper medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.

Early diagnosis by a developmental pediatrician and screening for cognitive issues may benefit girls with Turner syndrome with learning problems. A unique set of tests (called psychoeducational evaluation) can identify specific issues. It is best left to the consulting doctor to decide whether this testing suits the patient. Before kindergarten, assessing a girl's intellectual, learning, motor skills, and social maturity is essential. Early preventive and intervention strategies can help if such learning disabilities are observed.

Why Are Health Checks Important for Turner Syndrome?

Turner syndrome is associated with a risk of developing other health conditions, such as cardiovascular diseases, autoimmune diseases, bone conditions, kidney problems, vision and hearing issues, metabolic diseases, and mental health issues. Therefore, regular health checkups, timely treatment, and preventive care are important for young girls and women suffering from Turner syndrome.

Various hospitals have also dedicated separate clinics for Turner syndrome with different specialties assigned for the treatment of this syndrome, such as:

• Psychologist - For treating behavioral, emotional, and psychological issues.

• Pediatric and Adult Endocrinologist - For treating hormone-related problems in children and adults.

• Gynecologist - For treating conditions related to the female reproductive system.

• Cardiologist - For treating heart-related conditions.

• Geneticist - For treating inherited and genetical conditions.

• Obstetrician - For treating pregnancy and birth-related problems.

• Nephrologist - For treating conditions related to kidneys, and also helps in managing high blood pressure.

• Otolaryngologist (ENT) - For treating conditions related to Ear, Nose, and Throat (ENT). This specialty treats hearing issues and ear conditions, along with audiologists.

Conclusion:

Turner syndrome is a result of chromosomal aberrancy. The condition currently has no known cure. The main aim of treatment is to assess the physical and psychological state of the patient to help improve their quality of life. Early diagnosis plays a major role in the betterment of life for these patients. The advice of the consulting doctor must be followed closely. Also, patient compliance is very much necessary in such cases.