What is Turner Syndrome?
Turner syndrome affects females when one X chromosome is absent or incomplete, causing various medical and developmental problems.
Turner syndrome can be detected before birth or in early childhood, sometimes only confirmed in teenage or young adult years for mild cases.
Turner syndrome patients need ongoing specialized care but can lead healthy, independent lives with regular checkups.
What are the symptoms of Turner Syndrome?
Turner syndrome shows up differently in girls and women. Some may not show any signs, while others have noticeable traits early on. Symptoms can be mild or severe, like heart issues.
Before birth:
Turner syndrome can be diagnosed during pregnancy based on prenatal cell-free DNA testing, which uses a mother's blood sample to screen for specific chromosomal abnormalities in a growing baby, or prenatal ultrasound. A Turner syndrome baby's prenatal ultrasound may indicate:
- Abnormal kidneys
- Heart abnormalities
- A large amount of fluid has accumulated on the back of the neck.
During infancy:
Signs and symptoms of Turner syndrome at birth or during infancy may include:
- Broad chest with widely spaced nipples
- The high, narrow roof of the mouth ( palate)
- Low-set ears
- Arms that turn outward at the elbows
- Slowed growth
- Slightly smaller than average height at birth
- Wide or weblike neck
- Cardiac defects
- Short fingers and toes
- Swelling of the feet and hands, especially at birth
- Receding or small lower jaw
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Get A Second OpinionIn childhood, teens and adulthood:
Ovarian insufficiency due to ovarian failure and short stature are the most common symptoms in almost all Turner syndrome girls, teenagers, and young women. Failure to develop the ovaries may occur at birth or gradually during childhood, adolescence, or early adulthood. Some of the signs and symptoms include:
- No usual growth spurts
- Slowed growth
- Early menstruation ending
- Shorter adult height
- Difficulty conceiving without fertility treatment
When to see a doctor?
Due to symptom overlap, early diagnosis of Turner syndrome is vital; consult a doctor and consider referral to a geneticist or endocrinologist for evaluation.
What are the causes of Turner Syndrome?
Turner syndrome is caused by the complete or partial absence of one of the X chromosomes in females, typically resulting from genetic mutations or abnormalities.
Turner syndrome genetic alterations could be one of the following:
Monosomy:
The absence of an X chromosome is usually caused by a mistake in the father's sperm or the mother's egg. Therefore, each cell in the body has only one X chromosome.
Mosaicism:
During early embryonic development, some cells develop two X chromosomes, while others develop only one, leading to Turner syndrome.
X chromosome changes:
Altered or missing parts of the X chromosome may lead to Turner syndrome, with cells carrying one complete and one changed copy. These cells may originate from sperm or eggs or result from cell division errors during early fetal development, leading to mosaicism.
Y chromosome material:
In Turner syndrome, some cells have one X chromosome, while others have one X chromosome plus some Y chromosomal material, increasing cancer risk in biologically female individuals.
What are the complications of Turner Syndrome?
Complications of Turner syndrome can include:
- High blood pressure ( hypertension)
- Heart problems
- Kidney problems
- Hearing loss
- Thyroid issues
- Diabetes
- Osteoporosis
- Infertility
- Social and psychological challenges
How is Turner Syndrome diagnosed?
Turner syndrome is typically diagnosed through:
- Physical examination : Identifying physical features associated with Turner syndrome, such as short stature, webbed neck, and low hairline.
- Karyotype analysis : A blood test to analyze the chromosomes and detect abnormalities, such as a missing or altered X chromosome.
- Hormone tests : Measuring hormone levels to assess ovarian function and detect any hormonal imbalances.
- Imaging tests : Ultrasound or MRI scans may be performed to evaluate internal organs for any abnormalities, such as heart or kidney issues.
- Genetic testing : DNA analysis may be conducted to identify specific genetic mutations associated with Turner syndrome.
- Evaluation for associated conditions : Additional tests may be performed to screen for heart defects, kidney problems, hearing loss, and other associated conditions.
What is the treatment for Turner Syndrome?
Treatment for Turner syndrome typically involves:
- Growth hormone therapy for height improvement.
- Estrogen replacement for puberty induction and maintenance.
- Cardiac monitoring for heart health.
- Fertility treatment for infertility.
- Management of associated conditions.
- Psychological support.
- Regular medical follow-ups.
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Book an AppointmentDo's And Don'ts
| Do’s | Don’ts |
| Include fruits and vegetables in the diet. | Take medications without consulting the doctor. |
| Work with a mental health professional. | Eat processed foods and canned foods |
| Get screened regularly. | Avoid Turner syndrome symptoms |
To fight this condition, take care of yourself and strengthen your immunity while seeking adequate medical care.
Care at Medicover Hospitals
At Medicover Hospitals, we provide top-ranked care with experienced endocrinologists and specialists, offering holistic treatment using modern tools and technology for accurate diagnosis and effective management of Turner syndrome.
Frequently Asked Questions
Currently, there is no cure for Turner Syndrome. However, treatments are available to address various symptoms and complications associated with the condition.
Yes, Turner Syndrome can sometimes be detected before birth through prenatal testing such as chorionic villus sampling (CVS) or amniocentesis.
Long-term effects of Turner Syndrome can include infertility, heart and kidney problems, osteoporosis, and an increased risk of certain health conditions like diabetes and thyroid disorders.
Maintaining a healthy lifestyle with regular exercise, a balanced diet, and routine medical check-ups can help manage the symptoms and complications associated with Turner Syndrome.
Turner Syndrome is typically not inherited from parents and occurs randomly due to a chromosomal abnormality.
Many individuals with Turner Syndrome are infertile, but some may be able to conceive with the help of assisted reproductive technologies such as egg donation or in vitro fertilization (IVF).
