Reading about Turner syndrome symptoms, etiology, and treatment is compulsory for affected families and patients. Early Turner syndrome diagnosis and effective Turner syndrome management can avoid or treat medical complications as well as enhance quality of life. We will make it easy for you in this book to learn about Turner syndrome, from causes to treatment and what life is like living with the condition.

What is Turner Syndrome?

Turner syndrome is a genetic disorder that affects females alone. To better understand this disease, it is helpful to be aware of some facts regarding chromosomes. Chromosomes are tiny bodies inside our cells, and they carry genetic information. Man has 46 chromosomes in general, and among them, there are two sex chromosomes. Women have two X chromosomes (XX) while men have an X and a Y chromosome (XY).

Turner syndrome women are born with a single normal X chromosome rather than two. In some cases, the second X chromosome might be missing or structurally abnormal.  The Turner syndrome karyotype (arrangement of the chromosomes) is variable. It's most often "classic Turner syndrome" and the individual has one X chromosome (45,X). Others have two X's in half their cells and one X in the remaining cells (mosaicism), or they have a partial second X chromosome.

Causes of Turner Syndrome

Turner syndrome causes are fully genetic and are a matter of luck. It was not because of something or other that the mother had done or had not done during pregnancy. Turner syndrome result from a mistake in cell division when the eggs or sperm are being formed, or in early pregnancy.

How It Happens:

  • Random Error: The majority occur due to a random error in cell division
  • Age of Motherhood: Turner syndrome is not caused by age of motherhood in comparison to other genetic conditions
  • Non-heritable: Turner syndrome is not inherited genetically from parents to child like in the majority of cases
  • Spontaneous: The spontaneous alteration of chromosomes occurs without a recognized etiology

Risk Factors:

There are no risk factors determined which would make it more likely to have a child born with Turner syndrome. It is not arbitrary and can happen in any pregnancy. It happens in all races equally.

Family History:

If a child is born with Turner syndrome, the risk will not be higher during the next pregnancy of another child being born with it.

Common Symptoms of Turner Syndrome

Turner syndrome symptoms differ greatly in individuals. Some individuals have many symptoms, and other individuals have few. Turner syndrome can be categorized as follows:

Turner syndrome's physical characteristics are usually:

  • Short stature (most frequent symptom)
  • Webbed neck (extra skin at the sides of the neck)
  • Low back hairline
  • Swollen hands and feet, particularly in infants
  • Wide chest with extremely far-separated nipples
  • Arms that slant away from elbows
  • Droopy eyelids
  • Low-set, rotated-back ears

Growth and Development Issues:

  • Excessive childhood growth
  • Inability to achieve the expected adult height without treatment
  • Delayed or absent puberty
  • Turner syndrome infertility (the overwhelming majority of females can't conceive without treatment)
  • Missing or irregular menstrual cycles

Medical Issues:

  • Turner syndrome heart problems occurs in approximately 25-50% of the patients
  • Kidney anomalies
  • Deafness
  • Blindness
  • Thyroid anomalies
  • Bone anomalies, e.g., risk of osteoporosis
  • Risk of diabetes elevates with age

Learning and Development:

  • Average intellect (most people with Turner syndrome have normal or higher-level intellect)
  • Numbers, space information, or memory impairments in some people
  • Social difficulties or concern in certain situations

How is Turner Syndrome Diagnosed?

Turner syndrome diagnosis is made throughout all life stages, from prenatal life to adulthood. Early diagnosis is critical because it makes it possible to treat and manage Turner syndrome more effectively.

Prenatal Diagnosis:

  • Fetal testing during pregnancy would be diagnostic of Turner syndrome
  • Ultrasound will be able to pick up defects such as more fluid over the baby
  • Amniocentesis or chorionic villus sampling will be diagnostic

Diagnosis in Newborns:

  • Turner syndrome physical features includes puffy fingers and toes or webbed neck
  • Congenital heart defects discovered at birth
  • Turner syndrome genetic testing 

Diagnosis in Childhood:

  • Shortness of body that is not characteristic of families
  • Delayed growth or puberty
  • Learning issues in specific areas

Turner syndrome in adults:

  • Primary amenorrhea (never menstruating)
  • Short stature and other physical features
  • Heart or kidney problems

Diagnostic Tests:

  • Turner syndrome karyotype analysis: Chromosome study to confirm diagnosis
  • Physical exam to check for typical features
  • Heart examination (echocardiogram, EKG)
  • Kidney ultrasound
  • Hearing and eyesight tests
  • Hormone blood tests

Read More: Leaky Gut Syndrome


Treatment and Management of Turner Syndrome

Turner syndrome treatment is directed towards some features and prevention of Turner syndrome complications. Treatment is not single but numerous treatments that can manage the health and improvement in quality of life.

Treatment of Growth:

  • Turner syndrome growth hormone therapy is the most prevalent Turner syndrome treatment
  • Injections of growth hormone are beneficial to enhance the height
  • Treatment is started in childhood
  • Can be used to achieve a better height in adulthood

Puberty and Hormone Treatment:

  • Estrogen treatment to induce puberty and develop secondary sexual features
  • Hormone replacement therapy to preserve bone density
  • Treatment of abnormal menstrual cycles

Care of the Heart:

  • Periodic follow-up of the heart to monitor for characteristic 
  • Surgical repair of heart malformations if necessary
  • Blood pressure check
  • Some require surgery to fix serious heart defects

Restore Medical Treatment:

  • Routine measurement of kidney function
  • Continuous hearing and vision checks
  • Thyroid function tests
  • Bone density measurements
  • Counseling with a mental health expert when necessary

Fertility Options:

  • Most women with Turner syndrome have infertility, but treatment is possible
  • IVF and donated eggs have made women mothers
  • There is a possibility to adopt a family

Living with Turner Syndrome

Turner syndrome management involves constant medical care and monitoring throughout life. Turner syndrome life expectancy is normal with proper care, but certain medical conditions have to be treated for life.

Childhood and School:

  • Routine growth monitoring and hormone replacement therapy
  • One-to-one educational support in case of learning difficulties
  • Building self-esteem and self-confidence
  • Encouragement of activity and sport (with doctor's approval)

Teenage:

  • Hormone treatment for puberty
  • Emotional support throughout adolescence
  • Education about the disorder and advance planning
  • Acquiring self-sufficiency and self-care skills

Adulthood:

  • Follow-up on a regular basis by medical care provider
  • Education and work planning
  • Family and relationship planning counseling
  • Bone and heart health maintenance
  • Diabetes and thyroid disorder regular screening

Emotional and Social Support:

  • Change of adjustment can be facilitated by counseling
  • Support groups bond and become individual and families
  • Acquiring good social relationship
  • Emphasis on ability and strength
Unlike with other chromosomal conditions, individuals with Turner syndrome are of normal intelligence and are capable of becoming independent. The only strict differences from other conditions are the physical features themselves, growth problems, and infertility.

Conclusion

Turner syndrome is a genetic disorder in females because of a missing or partially present one X chromosome. Turner syndrome causes cannot be avoided, yet early  diagnosis and proper treatment will improve symptoms.
Common  symptoms involve short stature, delay in puberty, and specific physical features. Heart problems and infertility are complications of serious health that need to be regularly checked by a doctor. But with treatment such as Turner syndrome growth hormone therapy and hormone replacement therapy, it is also possible to successfully treat most of the features.

Diagnosis of the Turner syndrome aid in making a diagnosis and treatment planning. Turner syndrome treatment is a multidisciplinary one involving consultation from the health care team regarding individual needs.
With appropriate medical care, education, and family support, patients with Turner syndrome can be successful and lead a normal life. Proper diagnosis, appropriate treatment, and proper care at every age are the most important factors.

Please book an appointment with the Best Gynecologist in Lahore, Karachi, Islamabad, and all major cities of Pakistan through InstaCare, or call our helpline at 03171777509 to find a verified doctor for your disease.