Turner Syndrome

Turner Syndrome: Causes, Picture, Symptoms and Treatment

Turner syndrome is a condition that only affects the female population. It occurs when one of the X chromosomes is partially or completely missed in a child. A girl child has two X chromosomes (sex chromosomes) in their body. So, the syndrome can trigger various medical and developmental problems. So, a child suffering from the problem can experience heart defects, short height, and failure of the ovaries to develop properly. It is possible to diagnose the problem prenatally, during infancy or in early childhood. But, it is not easy to detect the problem in females who have mild signs. So, the diagnosis gets delayed until the female reaches their teen or young adult years. Girls, as well as women who suffer from the problem, need treatment for their whole lifetime. The treatment from specialists can help the affected female lead a healthy and independent life.

Symptoms Of Turner Syndrome

Turner syndromeThe signs associated with the syndrome vary from one female to another. The girls and women with the syndrome have varying signs. The mild signs are not visible, but in others, you can see visible physical features. Poor growth is also significant signs among females suffering from the issue. Some signs may develop slowly over time. So, you can see the following signs during the different stages of growth of affected females:

Prenatal Symptoms

Before birth, it is possible to detect the syndrome by prenatal cell-free DNA screening. It is the method to screen specific chromosomal abnormalities of the fetus. Using the blood sample from the expectant mother or prenatal ultrasound, the doctor can detect the problem. So, the prenatal ultrasound of female with Turner syndrome shows the following:

  • Abnormal Kidneys
  • Heart abnormalities
  • Abnormal fluid collection (Edema) or fluid collections on the back of the neck

At Birth Or During Infancy

The signs of Turner syndrome during birth or in infant stages may include the following:

  • Low-set ears
  • Web-like or wide neck
  • Broad chest with nipple spaced widely
  • Cardiac defects
  • Slowed growth
  • Narrow and upturned toenails and fingernails
  • Arms turning outwards at the elbows
  • The narrow yet high roof of the mouth
  • Smaller height (compared to average) at birth
  • Swelling of hands and feet at the time of birth
  • Short fingers and toes
  • Smaller or receding lower jaw
  • Back of the head has a low hairline

Signs During Childhood, Teens Or Adulthood

The short stature and insufficient development of ovaries are the main signs in affected girls or young women. Ovarian failure occurs at birth or gradually during the developing years. Therefore, the signs experienced by the females during the stage include:

  • No growth spurts during the expected time
  • Slowed overall growth
  • Less height compared to other girls in the family
  • Failure to start sexual changes during puberty
  • Stalling of sexual development during the teenage years
  • Early menstrual cycles end without becoming pregnant
  • Fertility issues causing trouble conceiving a child without treatment

Turner syndrome can trigger signs that resemble other health disorder. Therefore, it becomes difficult to distinguish it from others. It is significant to get an accurate diagnosis at the right time to get appropriate care. Therefore, if you see problems in physical or sexual development, then contact the doctor immediately.

Causes Of Turner Syndrome

A normal person has two sex chromosomes. The boys (XY chromosome) inherit the X chromosome from their mother and a Y chromosome from the father. While the girls (XX chromosome) inherit one X chromosome from each parent. When one X chromosome in the girls is completely missing, partially missing or defective, then they suffer from Turner syndrome. So, the genetic alteration results in the syndrome. The following reasons can lead to the alteration:

Monosomy

It causes the complete absence of the X chromosome due to an error in the mother’s egg or the father’s sperm. So, the error can lead to every cell in the child’s body having only one X chromosome.

Mosaicism

The error occurring in the cell division can lead to the absence of X chromosomes in some of the cells in the body. The problem occurs during the early stages of fetal development. So, some cells in the child’s body have two copies of the X chromosome, while others have only one copy of the X chromosome.

X Chromosome Abnormalities

The missing or abnormal parts of one of the copies of the X chromosome can also lead to Turner syndrome. It causes the cells to have one complete and one altered copy of the X chromosome. At times, the error occurring during the cell division during the early stages of pregnancy can lead to the problem.

Y Chromosome Material

It is observed in a small percentage of the people with the syndrome that they have some cells with one of the X chromosomes, while others have one copy of the X chromosome and some Y chromosome material. So, the child develops as a female. But, the presence of the Y chromosome can put the individual at risk of gonadoblastoma (a type of cancer).

The missing of effective X chromosome causes errors during fetal development. The child suffers from Turner syndrome due to chromosomal errors. It can lead to a developmental problem after birth. So, a child with a problem can have abnormal physical characteristics and health complications.

Risk Factors Causing Turner Syndrome

You may wonder what causes the syndrome to affect a girl child. The answer is, it occurs randomly. No family history or having parents with the syndrome leads to having a child with the same disorder. It occurs due to the problem with the mother’s egg or father’s sperm. The random loss or alteration of the X chromosome can even happen during early fetal development.

Complications Associated With Turner Syndrome

People affected by the syndrome can see developmental issues in their body system. But, each person with the syndrome can see different symptoms. The complications vary from one person to another. So, the general problems associated with the syndrome are:

Heart Problems

Many babies born with the syndrome are born with heart abnormalities. They can suffer from a heart defect or structural abnormalities. It increases their risk of suffering from serious complications. The problem includes issues with the aorta. It is the large blood vessel of the heart that delivers blood rich in oxygen to other organs in your body.

High Blood Pressure

Women with Turner syndrome can develop high blood pressure. So, the condition can trigger several problems, including disease of the blood vessels and heart.

Hearing Loss

The women with the syndrome can gradually lose the nerve function in the ears. So, it leads to hearing problems. It is a common issue associated with the syndrome. People with the syndrome also have an increased risk of middle ear infection that results in hearing problems.

Vision Problems

Syndrome affected people have weak muscle control of strabismus (eye movements). Therefore, they suffer from vision problem including nearsightedness.

Kidney Problems

Girls with Turner syndrome may have some malformation of the kidneys. Although these abnormalities generally don’t cause medical problems, they may increase the risk of high blood pressure and urinary tract infections.

Autoimmune Disorders

Women and girls suffering from the syndrome are more susceptible to autoimmune disorders. So, they are prone to hypothyroidism (underactive thyroid) due to Hashimoto’s thyroiditis. The syndrome also makes them more prone to issues like diabetes, inflammatory bowel disease, and celiac disease (gluten intolerance).

Skeletal Problems

Turners syndrome

The problem can trigger issues with the growth and development of bones. So, it increases the risk of abnormal curvature of the spine (scoliosis). It can also lead to kyphosis (the forward rounding of the upper back. The problem also puts the women at risk of developing osteoporosis (weak and brittle bones).

Learning Disabilities

The girls suffering from the syndrome have normal intelligence. But, they can experience learning disabilities. The risk increases when learning incorporates math, spatial concepts, and memory. Such children also have a lack of attention.

Mental Health Complications

Mental Health Complications

Females with the syndrome cannot function normally in social situations. They suffer from ADHD (Attention Deficit Hyperactivity Disorder). So, they become restless.

Infertility

The problem with the ovaries during the development makes women with the syndrome infertile. Only a small percentage of women with the syndrome can become pregnant naturally. Others require fertility treatment to conceive.

High-Risk Pregnancy

The women with the syndrome have pregnancy complications. They tend to have aortic dissection and high blood pressure. Therefore, they need special care from a specialist doctor during their pregnancy. They also need an evaluation from a cardiologist before getting pregnant.

Diagnosis Of Turner Syndrome

In most cases, the signs exhibited by the child lead parents to seek medical assistance. The doctor can confirm the diagnosis after conducting some tests. But, do you know that you can detect the issue in unborn babies? Prenatal diagnosis can detect the problem before the delivery of the child. So, the following methods detect the problem:

After Birth

The signs and symptoms discussed in the article make the doctor suspect your child has Turner syndrome. Apart from the physical assessment, the following test can conclusively detect the issue:

Blood Test

The blood test analyzes the child’s chromosome. So, the analysis can determine if the sample has a missing X chromosome or has any defect in one of the X chromosomes.

Skin Sample

Skin Sample

In some cases, the doctor requests a buccal smear (cheek scraping). The chromosomal analysis of the sample can detect the missing or abnormal X chromosome.

Prenatal Diagnosis

It is now possible to diagnose the problem during fetal development. The ultrasound images can offer insight into the features of the baby. Depending on the characteristics of the image, your doctor can suggest further tests to check for the chromosomal abnormality or other genetic conditions.

Non-Invasive Procedure

The prenatal screening tests evaluate the baby’s DNA present in the mother’s blood. It is the non-invasive procedure that detects the risk of Turner syndrome.

Invasive Procedures

The invasive procedures carried out by an obstetrician can diagnose the problem before birth. The following prenatal procedures can help detect the issues:

Chorionic Villus Sampling (CVS)

The procedure involves taking a small piece of the tissue from the placenta. The placenta in the womb contains the same genetic material as the baby. The chorionic villus cells from the placenta can help shed light on the chromosomes of the baby. So, the sample assessed in the genetic laboratory can detect the problem.

Amniocentesis

Amniocentesis

The invasive procedure involves taking a sample of amniotic fluid from the womb. Since the baby sheds its cells in the fluid, you can detect the abnormalities. The fluid sent to the genetics lab can study the chromosome of the baby can and check for problems.

But, the tests have some disadvantages. Therefore, you need to talk about prenatal testing with your doctor.

Treatment For Turner Syndrome

Unfortunately, the chromosomal condition in girls has no permanent cure. You can only seek medical help to overcome the physical and mental health associated with the problem. The complications and signs associated with the disorder vary from one person to another. Therefore, the doctor offers treatments addressed to meet the particular needs and problems of the child. You need to ensure constant evaluation and monitoring to address the problems due to the syndrome throughout life.

Team Of Doctors

To address the different issues encountered by the affected child, you need to get assistance from a panel of doctors. The child suffering from the syndrome can experience various developmental problems. So, to combat the medical complications, you need the assistance of a panel of specialists. The professional panel of specialists can screen for problems, make a precise diagnosis, and suggest apt treatment as well as care. Remember the team can evolve along with the needs of the child suffering from the syndrome. Therefore, it changes throughout life. The care team will include some or all of the specialists as per the requirement of the child:

  • Endocrinologist (Hormone disorder specialist)
  • Gynecologist (Women’s health specialist)
  • Medical Geneticist (A physician who specializes in genetics)
  • Cardiologist (Heart specialist)
  • Orthopedist (Skeletal disorders specialist)
  • Urologist (Urinary tract disorder specialist)
  • ENT (Ear, nose and throat specialist)
  • Gastroenterologist (A specialist in gastrointestinal disorders)
  • Ophthalmologist (A specialist in vision problems as well as other eye disorders)
  • Audiologist (A specialist in hearing problems)
  • Orthodontist (A dental specialist who specializes in correcting issues with the alignment of teeth)
  • A psychologist or psychiatrist (The mental health professional)
  • Developmental therapist (A specialist who offers therapy to the child to develop social skills, interpersonal skills, and age-appropriate behaviors.
  • Special education instructors
  • Reproductive Endocrinologist (Fertility specialist)

With the panel of specialist, your child gets apt treatment for the syndrome. The main treatment for the issue includes hormone therapies. So, the treatment option available are:

Growth Hormone Therapy

Turner syndrome can affect the growth of the girls affected by it. Therefore, Growth Hormone therapy can increase height and growth. It is given as injections daily at the appropriate times during early childhood until the early teen years. When you take the initiative to start the treatment early, it improves the affected child’s height and bone growth. It is mostly advised for girls who have short stature. So, the doctor recommends growth hormone along with oxandrolone. Oxandrolone is the hormone that produces more protein in the body. Therefore, it increases the height as well as improves the bone mineral density.

Estrogen Therapy

Estrogen Therapy

The girls suffering from the syndrome require estrogen therapy to begin puberty. Hormone replacement therapy is started when the child is around 11 or 12 years of age. Estrogen hormone is essential for the development of breasts and improves the uterus size (volume). It also aids in bone mineralization. When used with growth hormone, it promotes growth (height). So, the affected child requires estrogen replacement therapy throughout their life. It is required until menopause.

Fertility Treatment

Women suffering from Turner syndrome have fertility issues. Therefore, only a small percentage of women with the syndrome can get pregnant without treatment. Others experience severe issues with their reproductive organs like a failure of the ovaries, which leads to infertility and trouble becoming pregnant in their adulthood. So, women with the syndrome need to talk to their gynecologist about the reproductive goals. It is always a good idea to talk to a specialist like a reproductive endocrinologist about the pregnancy options.

Egg or embryo donation can enable such women, to have a child. So, it is essential to discuss the option with a reproductive endocrinologist and assess the chance of success. The specially designed hormone therapy can aid such women for pregnancy by preparing the uterus. But, women with the syndrome have relatively high-risk pregnancy compared to others. Therefore, discussing the option of pregnancy with a high-risk obstetrician can help women suffering to get a good idea. The specialist in maternal-fetal medicine can help the women understand the pros and cons associated with their individual condition.

Other Treatments

Other treatments are customized according to the requirement of the person suffering from the syndrome. You need to schedule regular checkups for girls or women suffering from Turner syndrome. It helps to monitor the progress in health and quality of life. It is also important to make the child prepare for the tradition from the pediatrician to the adult doctor as they progress in age. As the child enters adulthood, they need mental and physical health care services. Therefore, seek the assistance of a primary care doctor who can continue the coordination of specialist panel of doctor to ensure the affected person’s health throughout their life.

Coping And Support For Turner Syndrome

The families of people affected by the syndrome need to find a coping mechanism to release the excess stress they face. Not only the caretakers, but people affected by Turner syndrome also need coping and support to reach their maximum potential. So, here are the steps to cope with the overwhelming feeling associated with the disorder.

Acquire Information

Several organizations and online sites offer information on the syndrome. It provides educational materials along with the resources for the families. You can also access information about the support groups available to share your thoughts and views. It will help you find the groups, whereas a parent, you can discuss ideas and develop coping strategies. So, you can find the resources that will help you deal with the problem better.

Peer Groups

The peer groups can aid the affected girls to improve their confidence levels. It helps reinforce their self-esteem and find methods to live with the syndrome. The peer groups offer a social network of people who live help the affected person to challenge their limits.

Regular Checkups

You need to take your child to the doctor for regular check-ups. You need to keep up with the annual doctor appointments and scheduled baby visits. It will help your doctor track your child’s growth and detect the delays in it as soon as possible. By identifying the problems in the child’s physical development, the doctor can take actions to overcome the issues to an extent.

Conclusion

Turner syndrome does not affect the intelligence of the person affected by it. If you look around, you can see several celebrities with the syndrome who have influenced others. From actress Linda Hunt to gymnast Misty Marlowe, several women affected by the syndrome have succeeded in their life. With proper care and support system, the affected children can embrace their condition and reach new heights. They can lead a long and fulfilling life with ample support and care.

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