What is Turner Syndrome Symptoms Causes and Treatment

Each of us inherits our traits from our parents, meaning half of our genes come from the mother and the other half from the father. These genes are stored in structures called chromosomes, and typically, there are 46 chromosomes in each cell of our body. Among these chromosomes, there is a pair that determines gender: girls have (XX) and boys have (XY). However, sometimes a genetic disorder occurs that affects the chromosomes, and this is what happens in Turner syndrome, which only affects girls and causes a range of symptoms like short stature, delayed puberty, and other health issues. What do you think causes these changes in chromosomes? And is there a treatment that helps affected girls live a normal life? This is what we will discuss in detail in this medical guide article.

Turner Syndrome

Turner syndrome is a genetic disorder that affects females and was first described by Dr. Henry Turner. This syndrome is characterized by its impact on a girl's ability to conceive and makes her more prone to health issues such as hypothyroidism and osteoporosis. It occurs due to the complete or partial absence of one X chromosome, which affects growth and causes various medical complications.

Turner syndrome can be detected before birth, in early childhood, or sometimes remains unnoticed until adolescence or later in life. Girls with Turner syndrome require continuous medical follow-ups, but with proper care and regular check-ups, they can lead normal and independent lives.

Chromosomes carry our genes and genetic material (DNA). A typical human has 46 chromosomes, including two sex chromosomes. Males have one X and one Y chromosome, while females have two X chromosomes. The second X chromosome in females is called the "Barr body," and if there is an issue with it, it can lead to Turner syndrome.

In most cases, a girl with Turner syndrome has only one X chromosome, or if she has two, one may be incomplete in some cells. This abnormal X chromosome can come from either the mother or the father.

Types of Turner Syndrome in Children

There are several types of Turner syndrome, and the differences depend on how the X chromosome is affected:

1- Monosomy X (Classic Turner Syndrome)
This is the most common type, occurring when every cell in a girl's body has only one X chromosome instead of two. It accounts for about 45% of cases and happens due to a random error during the formation of the mother's egg or the father's sperm. If one of these affected cells contributes to the embryo, the child will be born with only one X chromosome in all her body cells.

2- Inherited Turner Syndrome
In rare cases, Turner syndrome can be hereditary and passed from one generation to another. This type occurs when a part of the X chromosome is missing, and this genetic alteration can run in families.

3- Mosaic Turner Syndrome
This type represents about 30% of cases. Some cells in the girl's body have the usual two X chromosomes, while other cells have only one X chromosome. This occurs randomly during early cell division in the first stages of pregnancy.

Causes of Turner Syndrome

Most people are born with two sex chromosomes. Boys inherit an X chromosome from their mother and a Y chromosome from their father, while girls inherit one X chromosome from each parent, meaning they have two copies of the X chromosome.

However, girls with Turner syndrome have an issue with the X chromosome—either one copy is missing or has an abnormality. This occurs due to one of the following reasons:

1- Monosomy (Single X Chromosome)
In this case, the egg or sperm carries only one X chromosome instead of two. After fertilization, the baby develops with only one X chromosome in all her cells. This accounts for about 45% of cases.

2- Mosaicism (Genetic Mosaic Turner Syndrome)
This type occurs when an error happens during early cell division in pregnancy. Some cells have the usual two X chromosomes, while others have only one X chromosome. This accounts for about 35% of cases.

3- Partial Deletion of the X Chromosome
In rare cases, a part of the X chromosome is missing. This genetic alteration can sometimes be inherited and passed down through generations, leading to Turner syndrome.

Symptoms of Turner Syndrome

Turner syndrome presents differently from one girl to another. Some may not show any clear signs, while others may have noticeable symptoms from an early stage. Symptoms can range from mild to severe, including serious heart issues.

Before Birth:

Turner syndrome can be diagnosed during pregnancy through non-invasive prenatal testing (NIPT), which analyzes fetal DNA from the mother's blood, or through ultrasound, which may detect signs such as:

  • Kidney abnormalities
  • Heart defects
  • Excess fluid accumulation at the back of the neck (cystic hygroma)

During Infancy:

After birth or during infancy, some signs may indicate Turner syndrome, including:

  • Broad chest with widely spaced nipples
  • High, narrow palate (cleft palate)
  • Low-set ears
  • Arms turned outward at the elbows
  • Slower growth rate than usual
  • Below-average birth length
  • Webbed or broad neck with extra skin folds
  • Heart problems
  • Short fingers and toes
  • Swelling of hands and feet, especially at birth
  • Small or receding lower jaw

Symptoms in Childhood, Adolescence, and Adulthood:

The most common signs of Turner syndrome in later stages of life are short stature and ovarian dysfunction, leading to hormonal imbalances. These issues may be present from birth or become more apparent in childhood, adolescence, or early adulthood.

Symptoms in these stages include:

  • Slower-than-normal growth
  • Lack of typical growth spurts seen in children of the same age
  • Delayed or incomplete puberty
  • Absence of menstruation, or early cessation if it starts
  • Shorter height compared to other girls of the same age
  • Difficulty conceiving without fertility treatments

How Does Turner Syndrome Affect Girls?

The impact of Turner syndrome varies from one girl to another. Some girls may have mild and unnoticeable symptoms, while others may show more obvious signs. Symptoms can appear early, during childhood, or may not become apparent until adolescence or adulthood. In some cases, symptoms become more pronounced with age.

Before Birth:

During prenatal ultrasounds, doctors may detect signs suggesting a possible Turner syndrome diagnosis, such as:

  • Fluid accumulation at the back of the neck (cystic hygroma)
  • Heart defects
  • Abnormal kidney development

After Birth (Infancy Stage):

Parents might notice some unusual features in their baby, including:

  • A broad or webbed neck (extra skin folds)
  • Low-set or differently shaped ears
  • Widely spaced nipples
  • High-arched palate (roof of the mouth)
  • Swelling in the hands and feet, short fingers, and small nails
  • Low hairline at the back of the head
  • A prominent or pigeon-shaped chest
  • Below-average birth height
  • Slower-than-normal growth
  • Heart and breathing difficulties if congenital heart defects are present

From Childhood to Adolescence: How Do Symptoms Become More Noticeable?

At this stage, symptoms become more apparent and may include:

  • Short stature: This is one of the most distinctive signs of Turner syndrome. The difference in height becomes noticeable by age 5, and the final adult height usually does not exceed 145 cm (about 20 cm shorter than the average).
  • Lack of normal growth spurts that typically occur during childhood.
  • Delayed puberty: Breast development does not occur unless the girl undergoes hormone therapy, leading to delayed physical changes associated with adolescence.
  • Ovarian dysfunction: This can cause early menopause or the complete absence of menstruation, affecting natural fertility and leading to infertility in some cases.
  • Low estrogen levels: Reduced levels of female hormones like estrogen impact physical development during puberty.

Why Does Turner Syndrome Affect Girls?

So far, scientists do not fully understand why the X chromosome undergoes mutations or disappears completely. However, they have classified Turner syndrome into different types based on chromosomal changes:

1- Monosomy X

In this type, every cell in the body has only one X chromosome, while the other is completely missing. This accounts for approximately 45% of cases.

2- Mosaic Turner Syndrome

Representing about 30% of cases, this type occurs when some cells have two complete X chromosomes (XX), while others have only one X chromosome. This is why it is called "genetic mosaicism."

3- Inherited Turner Syndrome

This is a rare type that occurs when there is an abnormality in the genetic material inherited from the sperm or egg. In these cases, the cells contain two X chromosomes, but one of them is incomplete due to an unknown genetic alteration.

How Does Turner Syndrome Affect Different Body Systems?

Unfortunately, the effects of Turner syndrome go beyond short stature and delayed puberty. It can cause complications in different body systems, such as:

  • Heart and Blood Vessel Problems: Congenital heart defects or high blood pressure.
  • Hearing Impairment: In some cases, this may lead to complete hearing loss.
  • Vision Problems: Such as eye movement disorders (strabismus).
  • Kidney Abnormalities: Which may affect kidney function.
  • Immune Disorders: Like hypothyroidism (Hashimoto’s disease).
  • Bone Issues: Including spinal curvature (scoliosis), excessive curvature (kyphosis), and osteoporosis.
  • Learning Difficulties: Especially in subjects requiring mathematical thinking, and sometimes difficulties with focus and attention.
  • Social Challenges: Difficulty interacting with others in certain situations.

Can Turner Syndrome Be Diagnosed During Pregnancy?

Yes, doctors can detect Turner syndrome in a fetus through various tests, including:

1. Cell-Free DNA Testing (Non-Invasive Prenatal Testing - NIPT)

  • A blood sample is taken from the mother to analyze fetal chromosomes for abnormalities.

2. Ultrasound (Sonography)

  • During pregnancy check-ups, doctors may notice signs indicating a possible Turner syndrome diagnosis.

3. Genetic Testing (Karyotyping)

  • This can be done using:
    • Amniocentesis:
      • Performed after 14 weeks of pregnancy. A sample of amniotic fluid is taken to check for chromosomal abnormalities.
    • Chorionic Villus Sampling (CVS):
      • Done between the 11th and 14th week of pregnancy by taking a placental tissue sample, which carries the same genetic material as the fetus.

Diagnosis of Turner Syndrome After Birth

After birth, the diagnosis of Turner syndrome relies on a combination of clinical observation and genetic tests. If a doctor notices characteristic symptoms such as short stature, swelling in the hands and feet in infants, or delayed puberty, they may request genetic tests to confirm the diagnosis. These tests include:

Chromosome Analysis (Karyotype Test)

A blood sample is taken to examine the number of chromosomes and determine if there is a missing or abnormal X chromosome. This test is the most accurate for confirming the diagnosis of Turner syndrome.

Advanced Genetic Testing (FISH or Microarray Analysis)

These tests are used if the karyotype analysis is unclear, providing more details about partial loss or small mutations in the X chromosome.

How Does Turner Syndrome Occur?

Typically, a fetus inherits 46 chromosomes, half from the mother and half from the father, including a pair of sex chromosomes (XX for females and XY for males).

In Turner syndrome, a genetic anomaly results in the absence or loss of part of the X chromosome, leading to the characteristic symptoms of the syndrome.

Types of Genetic Abnormalities in Turner Syndrome:

Classic Turner Syndrome (Monosomy X)
Represents about 50% of cases.
In this type, one of the X chromosomes is entirely missing, resulting in only 45 chromosomes instead of the usual 46. This abnormality occurs during the formation of the egg or sperm before fertilization.

Mosaic Turner Syndrome
Represents around 30-35% of cases.
In this type, some cells have two normal X chromosomes, while others are missing one or part of an X chromosome. This type leads to less severe symptoms compared to the classic type.

Complications and Implications of Turner Syndrome

In addition to the primary symptoms, individuals with Turner syndrome may experience health complications that affect various body systems, including:

  • Heart Problems or Congenital Heart Defects:
    Some heart structures may fail to develop normally during fetal development, which may require surgery later on. The most common defects include aortic stenosis or aortic valve abnormalities.

Hearing Problems

Some individuals with Turner syndrome may experience gradual hearing loss due to recurrent ear infections in childhood or degeneration of the auditory nerves in adulthood.

Recurrent Middle Ear Infections

Because the ear tubes are narrower than normal in individuals with Turner syndrome, they are more prone to middle ear infections, which can lead to hearing loss over time.

High Blood Pressure
This is common among teenagers and adult women with Turner syndrome.
The main cause is aortic stenosis, which makes the heart work harder to pump blood.

Kidney Abnormalities
Ultrasound imaging may reveal structural abnormalities in the kidneys, such as a single kidney or a "horseshoe-shaped" kidney.
These abnormalities don’t always affect kidney function, but they may increase the risk of urinary tract infections.

Thyroid Diseases and Diabetes
The risk of autoimmune hypothyroidism (Hashimoto’s disease) is higher, which can affect growth and energy levels.
Women with Turner syndrome are also more likely to develop type 2 diabetes due to insulin resistance.

Managing Complications

  • Regular check-ups to monitor heart and kidney function.
  • Hormone therapy for bone growth and the development of secondary sexual characteristics.
  • Ongoing care with specialists in cardiology, endocrinology, and otolaryngology.

Treatment and Management of Turner Syndrome

The treatment for Turner syndrome depends on the specific symptoms each individual experiences, so a comprehensive medical team is essential to develop an appropriate plan for each case. Several treatment approaches include:

  1. Growth Hormone Therapy
    Girls with Turner syndrome typically experience short stature, so they receive growth hormone therapy starting as early as 4 or 5 years old.
    This hormone helps increase height and improve bone growth. It is usually continued until adolescence to help them reach a height as close to normal as possible.

  2. Estrogen Hormone Therapy
    Girls with Turner syndrome often do not enter puberty naturally due to a lack of estrogen produced by the ovaries.
    Doctors begin estrogen replacement therapy around ages 11 or 12, which helps with:

  • Breast development, similar to other girls.
  • Stimulating the growth of the uterus and the natural development of reproductive organs.
  • Strengthening bones and preventing osteoporosis.
    This therapy continues until the girl reaches the age of natural menopause to maintain her health.

  1. Hormone Replacement Therapy (HRT)
    After puberty, girls with Turner syndrome may need hormone replacement, such as progesterone, to help regulate menstrual cycles and reduce health issues like osteoporosis and heart disease.

  2. Fertility Treatments
    Most girls with Turner syndrome are unable to conceive naturally due to ovarian insufficiency.
    However, assisted reproductive technologies like in-vitro fertilization (IVF) using donated eggs can help them have children if desired.

  3. Regular Medical Follow-up
    Ongoing care with specialists is essential, including:

  • An endocrinologist to monitor growth and puberty hormones.
  • A cardiologist to manage any vascular issues.
  • An otolaryngologist to track hearing problems.
  • An orthopedist to monitor bone development and prevent osteoporosis.

6. Psychological and Educational Support

Some girls with Turner syndrome face difficulties with learning and concentration, especially in subjects like mathematics and motor coordination, so they may need specialized academic support.
Additionally, psychological support is essential to help them manage social or emotional challenges.

Girls with Turner syndrome require follow-up care with multiple specialists because the syndrome affects various parts of the body. The specialties that should be involved include:

  • Endocrinologist
    This is the most crucial doctor for treatment, as they monitor growth hormones, estrogen therapy, and any issues related to the thyroid or diabetes.

  • Gynecologist
    They follow the hormonal development and puberty process, as well as fertility options if the patient wishes to conceive in the future.

  • Cardiologist
    A cardiologist is vital to monitor the heart and blood vessels, especially since some girls with Turner syndrome have issues with the aorta.

  • Orthopedic Doctor
    They follow bone growth, particularly since girls with Turner syndrome often experience short stature and may develop osteoporosis later.

  • ENT Doctor (Ear, Nose, and Throat)
    Regular check-ups for hearing problems and recurrent ear infections are essential as these are common among those with Turner syndrome.

  • Nephrologist
    Some girls may have congenital kidney issues, so regular monitoring is needed for early detection of any problems.

  • Psychologist/Psychiatrist
    As some patients face challenges with self-esteem, social interactions, and learning difficulties, psychological support is vital for their emotional well-being.

Girls with Turner syndrome need to be followed by multiple doctors because the syndrome affects various parts of the body. The specialties that should be involved include:

  • Endocrinologist
    This is the most important doctor for treatment, as they monitor growth hormones, estrogen therapy, and any issues related to the thyroid or diabetes.

  • Gynecologist
    They monitor hormonal development and puberty, as well as fertility options if the patient wishes to conceive in the future.

  • Cardiologist
    This is crucial to ensure heart and artery health, as some girls with Turner syndrome may have issues with the aorta.

  • Orthopedic Doctor
    They monitor bone growth, especially since girls with Turner syndrome often experience short stature and may develop osteoporosis later.

  • ENT Doctor (Ear, Nose, and Throat)
    They track hearing issues and recurrent ear infections, which are common among those with Turner syndrome.

  • Nephrologist
    Some girls may have congenital kidney problems, so regular monitoring is needed for early detection of any issues.

  • Psychologist/Psychiatrist
    Since some patients face challenges with self-esteem, social interactions, and learning difficulties, psychological support is very important.

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