Turner Syndrome
(Diseases)
This page contains everything you need to know about Turner Syndrome.
What is Turner Syndrome?
- Turner Syndrome is a chronic chromosomal disorder that affects only females, causing numerous health problems. There is noXdefinitive cure for it, but symptoms can be managed by following a treatment plan recommended by a doctor.
- Types ofXTurner Syndrome:
Complete loss of an X chromosome.
Partial loss of an X chromosome.
- What are the Symptoms of Turner Syndrome?
- Symptoms can vary in severity depending on each person’s genetic makeup.
- Swelling of the hands and feet at birth (lymphedema).
- Wide neck with skin folds extending down the sides of the neck (webbed neck).
- Short stature.
- Low hairline at the back of the neck.
- Feeding difficulties during infancy.
- Slight differences in the shape and position of the ears.
- Broad chest with widely spaced nipples.
- More small brown moles (nevi) on the skin than usual.
- Deep-set fingernails.
- Small jaw.
- Narrow upper part of the inside of the mouth (high-arched palate).
- Skeletal problems.
- Eye problems requiring corrective lenses.
Heart disease.
- KidneyXdisorders.YXYX
- What are the Causes of Turner Syndrome?
- In every cell in the body, there are X and Y chromosomes. The X chromosome comes from the mother, and the Y chromosome comes from the father. Turner Syndrome occurs due to a complete or partial loss of an X chromosome or due to an error in cell division.
Problems with sperm.
Problems with the egg.
- How is Turner Syndrome Diagnosed?
- The doctor will take a medical history and perform a physical examination. They may also request additional procedures as needed, such as:
- Prenatal ultrasound: To identify heart or kidney health issues, or the presence of lymphedema.X.
- Chorionic villus sampling (CVS) or amniocentesis before birth: For chromosomal analysis.
Karyotyping: A blood test to analyze an individual’s chromosomal makeup and identify the presence of the X chromosome.
Psychological and educational assessment.
- What are the Treatment Methods for Turner Syndrome?
- There is no definitive cure, but symptoms are managed with various interventions as needed, which may include:
- Hearing and Ears: Increased risk of middle ear infections in childhood, requiring prompt treatment. Potential early hearing loss affects social interaction.
- Blood Pressure:Common hypertension thatrequiresregularfollow-upand potential treatment. It may be linked toheart or kidneyissues.
- Thyroid Gland: Thyroid function tests due to an increased risk of hypothyroidism.
- Sugar Levels: Glucose level checks to screen for diabetes.
- Bone Density: Increased risk of osteoporosis in late adulthood, requiring regular bone density scans to assess changes.
- Growth hormone Therapy: Recommended by an endocrinologist for girls who are not growing normally. Helps increase height and is usually given via daily injections from ages 5-6 years until 15-16 years.
- Estrogen and Progesterone Replacement Therapy: Stimulates sexual development and protects against osteoporosis. Usually starts at the age of natural puberty (around 11 years). May begin earlier with gradually increasing doses.
- Fertility: Most women with Turner Syndrome are unable to become pregnant. Reproductive technologies are an option. Pregnancy is very closely monitored by medicine as an additional burden on the heart and blood vessels.
Psychological Support: Some individuals may experience psychological issues such as low self-esteem or depression. Psychological treatment, such as counseling or cognitive-behavioral therapy (CBT), can be beneficial.
Learning Difficulties: Some individuals may need additional support due to learning difficulties. Assessment by a psychologist and providing appropriate educational support are crucial.
What are the Prevention Methods for Turner Syndrome? Here here
There is no way to prevent Turner Syndrome, but it may be beneficial to address issues related to sperm and egg quality before conception.
- What are the Complications of Turner Syndrome? Here here
- complications may vary amongst the individuals with the syndrome, which include:
- Problems with teeth, heart, eyes, ears, Kidneys, bones, and the gastrointestinal system.
- Autoimmune disorders, such as hypothyroidism and celiac disease.
Learning difficulties and attention-deficit/hyperactivity disorder (ADHD).
Infertility.
When Should You See a Doctor? Here here
When the mentioned symptoms appear, or if a child is not growing normally and shows delayed puberty.
Frequently AskedXQuestions:
Does Turner Syndrome Affect Males? here here
No, it only affects females because it is a problem with the X chromosome, which is present in females.
