What is Turner Syndrome?
Turner syndrome is a condition that only affects females and occurs when one of the X chromosomes (sex chromosomes) is absent or partially missing. Turner syndrome can result in a number of medical and developmental issues, including short height, ovarian failure, and heart defects.
Turner syndrome can be detected before birth, during infancy, or early childhood. Sometimes the diagnosis of Turner syndrome in females with mild signs and symptoms is not confirmed until the teen or young adult years.
Turner syndrome patients require ongoing medical care from a number of specialists. Most girls and women can live healthy, independent lives with regular checkups and adequate care.
Symptoms
Turner syndrome signs and symptoms can differ between girls and women. This condition may not be noticeable in some girls, but in others, various physical traits are noticeable early on. Signs and symptoms might be mild, appearing gradually over time, or severe, such as cardiac abnormalities.
- 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
- In 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 growth spurts at the normal ages of childhood
- Slowed growth
- Early menstrual cycle ending that is not related to pregnancy
- Adult height is far shorter than what may be anticipated for a female family member.
- The inability to conceive without fertility treatment affects most females with Turner syndrome.
When to see a doctor?
It might be difficult to identify Turner syndrome symptoms from those of other diseases. It is critical to have an early, accurate diagnosis and proper care. Consult the doctor if you find any signs and symptoms. The doctor may recommend patients to a geneticist (geneticist) or an endocrinologist (endocrinologist) for further evaluation.
Causes
Most people have two sex chromosomes when they are born. Males receive the X and Y chromosomes from their mothers and fathers, respectively. Each parent gives a female one X chromosome. In females with Turner syndrome, one copy of the X chromosome is missing, partially missing, or mutated.
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 the early phases of embryonic development, an error in cell division occurs in some circumstances. As a result, some body cells have two complete copies of the X chromosome. Other cells only have one X chromosome.
- X chromosome changes : Changed or missing X chromosome parts are possible. The cells have one full and one changed copy which can arise in sperm or eggs, with each cell having one complete and one changed copy. Alternatively, the error might arise during early fetal development during cell division, so that only some cells carry the changed or missing sections of one of the X chromosomes (mosaicism).
- Y chromosome material : Some cells in Turner syndrome patients contain one copy of the X chromosome, whereas others have one copy of the X chromosome and some Y chromosomal material. These individuals develop biologically as females, but the presence of Y chromosomal material raises the risk of developing gonadoblastoma, a type of cancer.
Complications
Turner syndrome can interfere with the healthy development of various body systems. However, this varies widely among patients. Possible complications include:
- Heart problems : Many Turner syndrome infants are born with heart problems or minor structural abnormalities that raise their risk of significant consequences. Problems with the aorta, the major blood vessel that branches off the heart and provides oxygen-rich blood to the body, are common cardiac abnormalities.
- High blood pressure : Turner syndrome can increase the risk of high blood pressure, which increases the risk of developing heart and blood vessel problems.
- Hearing loss : Turner syndrome is associated with hearing loss. This is caused in certain cases by the gradual loss of nerve function. Hearing loss can also come from an increased risk of middle ear infections.
- Vision problems : Turner syndrome increases the chance of inadequate muscle control of eye movements (strabismus), nearsightedness, and other vision disorders.
- Kidney problems : Turner syndrome may be related to renal abnormalities. Although these abnormalities rarely cause medical concerns, they do raise the risk of urinary tract infections.
- Autoimmune disorders : Turner syndrome can raise the risk of hypothyroidism (underactive thyroid) caused by the autoimmune illness Hashimoto's thyroiditis. Diabetes is also at an elevated risk. Turner syndrome is sometimes linked to gluten intolerance (celiac disease) or inflammatory bowel disease.
- Skeletal problems : Problems with bone growth and development raise the risk of abnormal spine curvature (scoliosis). This condition can also raise the risk of getting weak, brittle bones (osteoporosis).
- Mental health issues : Turner syndrome can cause difficulties in social situations,anxiety and sadness, and a higher risk of hyperactivity disorder/ attention deficit in girls and women (ADHD).
- Infertility : The majority of Turner syndrome females are infertile. However, a very small percentage of women may become pregnant independently, and some may become pregnant through fertility treatment.
- Pregnancy complications : Because women with Turner syndrome are more likely to have issues during pregnancy, such as aortic dissection and high blood pressure, they should be assessed before becoming pregnant by a heart expert (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist).
Diagnosis
If the doctor suspects the child has Turner syndrome based on signs and symptoms, a lab test will be performed to analyze the child's chromosomes. A blood sample is required for the test. The doctor may also request a cheek scraping (buccal smear) or a skin sample on occasion. The chromosome analysis reveals whether or not an X chromosome is absent or if one of the X chromosomes has changed.
Treatment
Treatments are tailored to the individual's specific concerns because symptoms and effects differ. Throughout life, evaluation and surveillance for physical or mental health difficulties connected with Turner syndrome can help in the early detection of problems.
Hormone therapy is the principal treatment for nearly all Turner syndrome girls and women:
- Growth hormone : Growth hormone therapy, usually given daily as an injection of recombinant human growth hormone, is normally suggested to enhance height as much as possible from early childhood till the early adolescent years.
- Estrogen therapy : To begin puberty, most Turner syndrome females must begin estrogen and related hormone therapy. Estrogen therapy is frequently initiated around the age of 11 or 12. Estrogen promotes breast development and increases uterine volume. Estrogen helps in bone mineralization and, when combined with growth hormone, may help in height gain. Estrogen replacement medication is often continued throughout life until the average age of menopause is attained.
Other therapies are adapted to specific conditions as needed. Regular examinations have demonstrated significant improvements in the health and quality of life of Turner syndrome girls and women.
It is critical to help the child prepare for the transition from pediatric to adult medical and mental health treatment. A primary care physician can assist in the ongoing coordination of care among various specialists.
Do's And Don'ts
If you notice any swelling of the hands and feet, especially at birth, contact the doctor. Treatment for Turner syndrome involves identifying the underlying ailment or disease and treating it. Here are some of the following dos and don'ts that might assist with symptom management.
| 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 work with the most respected endocrinologist and healthcare specialists who can provide our patients with the best medical care while showing them compassion and care. To address the condition of thorough treatment, recovery, and well-being, we adopt a holistic approach with the active participation of healthcare specialists from different departments, each with their specific speciality. Modern tools and technology are available in our diagnostic section to carry out the necessary diagnostic tests. Our outstanding endocrinologist approaches the condition's diagnosis and treatment methodically. They deliver the required medical care and therapeutic, rehabilitative services to treat this illness effectively.
