Turner’s Syndrome - An Overview

Creator: Dr. Ankita Balar
Published: 2023-05-15T18:28:03

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Turner's syndrome is a rare disorder in which a female child is born with only one X-chromosome. Read this article to find its causes, symptoms, and management.

Written by

Dr. Ankita Balar

Medically reviewed by

Dr. Basuki Nath Bhagat

May 15, 2023

May 18, 2023

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Contents

What Is Turner's Syndrome?
What Are the Causes of Turner's Syndrome?
What Are the Symptoms of Turner's Syndrome?
What Are the Risk Factors for Developing a Turner's Syndrome?
How Is Turner's Syndrome Diagnosed?
Which Specialists Will Make a Healthcare Team to Manage Turner's Syndrome?
What Is the Treatment of Turner's Syndrome?
What Are the Complications of Turner's Syndrome?
How to Prevent Turner's Syndrome?

What Is Turner's Syndrome?

Turner's syndrome is a rare genetic disorder affecting only females characterized by a wholly or partially missing X chromosome. Turner's syndrome can cause short stature, lack of breast development, ovaries development, and menstrual periods. The primary treatment for Turner's syndrome includes hormone therapy.

What Are the Causes of Turner's Syndrome?

Babies are born with two sex chromosomes. Males inherit a maternal X chromosome and a paternal Y chromosome, while females inherit two X chromosomes, one from each parent. One X chromosome is partially or wholly missing or modified in females with Turner's syndrome.

These genetic changes can be due to the following reasons-

Monosomy - The complete absence of an X chromosome due to an error in the father's sperm or mother's egg. Every cell in the body has only one X chromosome in this type of defect.
Mosaicism - Error occurs in the early stages of cell division during fetal development. Few cells in the body have two X chromosomes, while some cells have only one X chromosome.
X Chromosome Abnormality - Modified or missing parts in one X chromosome. Cells have one complete and one missing copy of the X chromosome. This defect can occur in the sperm, egg, or during cell division in early fetal development.
Y Chromosome Material - In some cases, few cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as females, but due to Y chromosome material, they are at increased risk of developing gonadoblastoma cancer (germ cell tumor).

What Are the Symptoms of Turner's Syndrome?

Symptoms of Turner syndrome vary significantly among different females.

The following signs and symptoms can be observed at different stages-

Before Birth - Turner syndrome can be suspected prenatally based on prenatal cell-free DNA screening (a maternal blood sample is used to screen for chromosomal abnormalities in a developing baby) or an ultrasound.

The prenatal ultrasound will show-

Edema and extensive fluid collections.
Kidney abnormalities.
Heart abnormalities.

At the Time of Birth-

Weblike wide neck.
Low-set ears.
High and narrow palate.
Smaller lower jaw.
Slow growth and height smaller than average.
Shorter limbs and fingers.
Broad chest and widely spaced nipples.
Abnormal arms that turn outward at the elbows.
Narrow fingernails and toenails.
Swelling of the hands and feet at birth.
Heart problems.
Back of the head with a low hairline.

During Teenage and Adulthood-

Short stature.
Ovarian Insufficiency- Ovaries fail to develop at birth, childhood, teenage, or young adulthood.
Slowed Growth- No expected growth spurts.
No sexual changes at puberty.
Sexual development halted during the teenage years.
Early menopause.
Inability to conceive.

What Are the Risk Factors for Developing a Turner's Syndrome?

The alteration or loss of the X chromosome occurs randomly.
It can happen if there is a problem with the sperm or the egg.
It can occur if there is a loss or alteration of the X chromosome during the early period of fetal development.
Family history is not a risk factor.

How Is Turner's Syndrome Diagnosed?

Parents are the first to notice symptoms of Turner's syndrome. This can happen before birth, at the time of delivery, or during early childhood periods.

The first visible features are-

Swelling in hands and feet.
Skin webbing on the neck.
Short stature or delayed growth.
Lack of breast development and menstrual periods.

Healthcare providers can diagnose Turner's syndrome at any stage of a child's development or even before birth.

Prenatal diagnostic methods are as follows-

1) Maternal serum screening.

2) Karyotype analysis (genetic test) can confirm the diagnosis. This test can determine the total or partial absence of the X chromosomes.

Chorionic Villus Sampling - A small piece of tissue is taken from the developing placenta and sent to the lab for chromosome studies. This test is done between 11 weeks to 14 weeks of pregnancy.
Amniocentesis - A sample of the amniotic fluid is taken from the uterus and sent to the lab to evaluate the baby's chromosomes. This is done after 14 weeks of pregnancy.

3) Ultrasound.

4) Heart evaluation is also needed as a part of diagnosis, as people with Turner's syndrome may have heart problems.

5) During adulthood, early ovarian failure and early menopause confirm the diagnosis.

Which Specialists Will Make a Healthcare Team to Manage Turner's Syndrome?

Treatment for Turner's syndrome depends on symptoms and development. However, a coordinated healthcare team can provide comprehensive care and tailor a management plan.

The healthcare team must include the following specialists-

Specialist in women's health (gynecologist).
Fertility specialist (reproductive endocrinologist).
Hormone disorder specialist (endocrinologist).
Genetics specialist (medical geneticist).
Heart specialist (cardiologist).
Skeletal disorders specialist (orthopedist).
Ear, nose, and throat (ENT) specialist.
Specialist in hearing problems (audiologist).
Eye specialist (ophthalmologist).
Specialist in gastrointestinal disorders (gastroenterologist).
Specialist in urinary tract disorders (urologist).
Psychologist or psychiatrist.
Developmental therapist.

What Is the Treatment of Turner's Syndrome?

Treatment of Turner's syndrome includes-

Human Growth Hormone - To increase height.
Estrogen Therapy - Estrogen (female hormone) can help girls develop breasts, begin menstruation, grow the uterus, and improves brain development, heart function, liver function, and skeletal health.
Cyclic Progestins - Progestins help to induce cyclic menstrual periods. Treatment is started at 11 or 12 with low doses and then gradually increased to simulate puberty.

What Are the Complications of Turner's Syndrome?

Following complications can occur due to Turner's syndrome-

Many babies with Turner's syndrome are born with heart defects or slight abnormalities in heart structure, like problems with the aorta and the large blood vessel.
High blood pressure.
Hearing loss due to the gradual loss of nerve function and frequent middle ear infections.
Strabismus (weak muscle control of eye movements), nearsightedness, and other vision problems.
Malformed or abnormal kidneys.
Autoimmune disorders like Hashimoto's thyroiditis, diabetes, gluten intolerance (celiac disease), or inflammatory bowel disease.
Skeletal problems like abnormal curvature of the spine (scoliosis), forward rounding of the upper back (kyphosis), and weak, brittle bones (osteoporosis).
Learning disabilities.
Mental health problems like anxiety, depression, and attention-deficit hyperactivity disorder (ADHD).
Infertility.
Pregnancy complications such as high blood pressure and aortic dissection.

How to Prevent Turner's Syndrome?

Turner's syndrome is a congenital problem when a random error results in a missing or incomplete X chromosome. Unfortunately, there are no ways to prevent this condition.

Conclusion

Taking the person suffering from Turner's syndrome to regularly scheduled doctor visits and annual appointments right from childhood is essential. These visits can help the doctor identify physical development problems and plan appropriate treatment accordingly. The prognosis for women with Turner's syndrome is good. Women with Turner's syndrome can expect to live normal lives through proper testing and treatment.

Frequently Asked Questions

1. What Is the Name of the Turner Syndrome Medication?

Turner syndrome itself cannot be treated with a specific drug. Instead, the goal of treatment is to control the symptoms and side effects that are present. This might involve treatment with growth hormones for small stature and replacement hormones (e.g., estrogen and progesterone) to induce puberty and manage problems with reproductive health. Treatment plans are often developed with a diverse medical team and are specific to each patient's needs.

2. What Can Be Done to Avoid Turner Syndrome?

Genetic medical conditions, including Turner syndrome, often happen at random and cannot be prevented. In females, it results from an incomplete or absent X chromosome. There's no known method to prevent it from happening, but early detection and the right healthcare may help control the signs and related health problems.

3. How Is Turner Syndrome Identified and Handled?

Physical and genetic examinations, particularly karyotype testing to confirm the absence of one X chromosome in females, are commonly used to diagnose Turner syndrome. Hormone replacement treatment is frequently used in management to treat growth and reproductive problems, coupled with routine medical checkups to evaluate cardiac and renal health. Additionally, if necessary, psychological and educational support may be given.

4. Turner Syndrome Is a Risk Factor for Who?

The genetic disorder Turner syndrome, which results in the complete or partial absence of one X chromosome, primarily affects girls. It is a medical ailment that people are born with rather than a risk factor for any particular group. Those who have Turner syndrome may be at risk for health problems and need continuing medical care to address its side effects, which include short stature and fertility problems.

5. What Leads to Fetal Turner Syndrome?

The genetic abnormality that leads to girls being born without one X chromosome is the main cause of fetal Turner syndrome. This condition typically develops on its own and is not inherited. The precise underlying cause varies from case to instance and is still unknown. The accompanying health problems can be managed with early diagnosis and medical intervention.

6. How Is Turner Syndrome Passed Down in Humans?

Typically, incorrect genes inherited from parents do not cause Turner syndrome. Instead, it typically happens randomly during the development of the reproductive cells or in the early stages of life. It mainly affects females and is brought on by an incomplete or missing X chromosome; it is not handed down from one generation to the next. It is a sporadic genetic disorder instead.

7. How Likely Is It That Turner Syndrome Is Inherited?

When accidental mistakes frequently occur when reproductive cells originate in the mother or the father, Turner Syndrome is typically not inherited. It is a sporadic genetic disorder that develops randomly instead of being passed on from parents to their offspring. However, this is not the primary method of transmission for Turner Syndrome. In rare instances, it may be linked to inherited genetic disorders.

8. Does Turner Syndrome Have a Genetic Defect?

Yes, a genetic disorder is frequently to blame for Turner Syndrome. It happens when one of the X chromosomes is partially or entirely missing from the cells of a female. This genetic aberration may result in a number of the physical and developmental traits connected to Turner Syndrome.

9. Turner Syndrome: Is It Frequent or Rare?

An uncommon genetic condition affecting 1 in every 2,500 to 3,000 female births is Turner Syndrome. It can cause various developmental and health issues in females and is brought on by the partial or total loss of one X chromosome. It is considered an uncommon condition in medical terminology because of its low occurrence.

10. How Long Is Turner’s Syndrome Tolerable?

Turner's Syndrome is a chronic disorder that can be controlled with the right medical attention and assistance. With the right medical procedures and psychological support, people with Turner's Syndrome can live every day, fulfilling lives for the majority of their lives. Improved results and quality of life for those with this disorder depend heavily on early identification and treatment. Turner's syndrome sufferers can live long, robust lives with the help of ongoing medical care.

11. Is Turner Syndrome Reversible?

There is no cure for Turner syndrome. It is a hereditary disorder that affects females and is brought on by the absence or partial absence of one of the X chromosomes. The underlying genetic reason cannot be changed despite the fact that medical treatments can help manage some of the accompanying symptoms and problems. Turner Syndrome patients often receive treatment that focuses on resolving growth and hormonal abnormalities in order to improve their quality of life.

12. Turner Syndrome: Is It Painful?

Physical pain is not frequently associated with Turner syndrome itself. However, those who have Turner syndrome may also have concurrent illnesses, including heart or renal disorders, which can be painful or uncomfortable. Essential components of addressing these concomitant illnesses include pain control and routine medical monitoring.

13. How Can One Determine if They Have Turner Syndrome?

A healthcare expert who can perform a complete evaluation should be consulted to determine whether someone has Turner Syndrome. A physical examination, a review of the patient's medical history, and specialized testing, including a karyotype study to look for X chromosomes that are defective or absent, are usually required for diagnosis. Short stature, a webbed neck, and specific cardiac or renal problems may also call for additional testing for Turner syndrome. Effective management of this hereditary disorder depends on early detection and action.

14. Can Turner Syndrome Be Fatal?

Usually, Turner syndrome does not result in death. However, it may result in a number of medical issues that pose health hazards. The general health and lifespan of people with Turner syndrome can be considerably improved with proper medical management and prompt interventions. Regular medical care and monitoring are crucial for people with this condition to prevent potential health issues.

15. What mental effects does Turner syndrome have on a person?

Several mental effects, including issues with spatial and mathematical reasoning, can be brought on by Turner syndrome. Furthermore, those who have Turner syndrome may struggle with social and emotional issues, such as difficulty interacting with others and a higher risk of anxiety and depression. To treat these problems and promote general mental health, cognitive and behavioral therapy may be beneficial.

Sources

Dr. Basuki Nath Bhagat

Family Physician

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