Medication
- What diagnostic tests are needed?
- When will we know the results of the tests?
- What specialists will we need to see?
- How will you screen for disorders or complications that are commonly associated with Turner syndrome?
- How can I help monitor my child's health and development?
Procedures
There is no cure for Turner syndrome, but the existing therapies can improve physical development in some girls. In addition, appropriate medical care allows girls with Turner syndrome to have a better life and have children in the future with assisted reproductive technologies (ART).
Therapy
Turner syndrome
- Diagnosis. If, based on signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will typically be done to analyze your child's chromosomes.
- Treatment. Because symptoms and complications vary, treatments are tailored to address your child's particular problems.
- Coping and support. ...
- Preparing for your appointment. ...
Self-care
There is no cure for Turner syndrome, but therapies have been developed that can improve physical development. With proper medical care, females with Turner syndrome should be able to lead full, productive lives. The primary therapies for affected individuals are growth hormone therapy and estrogen therapy.
Nutrition
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What are the best treatments for Turner syndrome?
Why is there no cure for Turner syndrome?
What type of Medicine is used for Turner syndrome treatment?
Is there a cure coming soon for Turner syndrome?
Does every person with Turner's syndrome need treatment?
Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood.
Are there treatments for Turner's syndrome?
There is no cure for Turner syndrome, but therapies have been developed that can improve physical development. With proper medical care, females with Turner syndrome should be able to lead full, productive lives. The primary therapies for affected individuals are growth hormone therapy and estrogen therapy.
How is Turner's syndrome treated in children?
Treatments such as growth hormone injections and estrogen replacement therapy can help treat Turner syndrome symptoms. Your child's physician will recommend treatment that meets her unique needs.
What stage does Turner syndrome occur?
Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.
When do you give growth hormone in Turner syndrome?
Girls with Turner syndrome are entitled to receive high-dose growth hormone therapy as soon as it becomes apparent that they're not growing normally. It will help make them taller in adulthood. Growth hormone therapy is a daily injection, started at around 5 or 6 years of age or later.
How early can Turner syndrome be detected?
Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.
What is the prognosis for Turner syndrome?
The prognosis, or outlook, for women with Turner syndrome (TS) is usually good. Life expectancy for Turner syndrome might be slightly shorter, but by testing for and treating the conditions that come with TS, women with TS can expect to live essentially normal lives.
Can a baby survive with Turner syndrome?
TS is a random disorder caused by not having the typical pair of X chromosomes. TS cannot be prevented nor is there a cure. TS is found in every 1 in 2,000 living females. When survivable, TS is a treatable and manageable condition.
How accurate is the blood test for Turner syndrome?
The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17).
Can you have mild Turner's syndrome?
While 95% of girls with Turner syndrome have short stature, many have few or no other phenotypic features, often resulting in late or missed diagnosis. Mosaicism can occur, leading to a milder presentation and often making recognition of the condition more difficult.
Can Turner syndrome be misdiagnosed?
The discrepancies between the blood and skin karyotypes found in our patients mean that previous cases of Turner's syndrome have been undiagnosed or misdiagnosed. We suggest that in some cases of Turner's syndrome the abnormal cell lines die out in the bone marrow, thereby leaving the 46, XX cell line.
What is an interesting fact about Turner syndrome?
Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of seven girls who all had the same unusual developmental and physical features. People with Turner syndrome have an abnormally short stature—the average height of a person with TS is 4 ft 8 in.
Where does Turner syndrome come from?
It comes from the mother’s egg or the father’s sperm randomly forming without an X chromosome. After fertilization, the baby’s cells also contain this defect. Mosaic Turner syndrome: Also called 45,X mosaicism, this type makes up about 30% of Turner syndrome cases.
What is the cause of Turner syndrome?
Turner syndrome is a genetic disorder affecting girls and women. The cause of Turner syndrome is a completely or partially missing X chromosome. Turner syndrome symptoms include short stature and lack of breast development and periods. Treatment for Turner syndrome may include hormone therapy.
What test can confirm Turner syndrome?
A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. This test requires a blood draw. It can determine whether one of the X chromosomes is fully or partially missing. A complete heart evaluation is also part of diagnosis.
What are the problems with TS?
Up to 50% of people with TS have a problem with the structure of their hearts. Cardiovascular problems can include : Bicuspid aortic valve, with two valve leaflets instead of three. Coarctation of the aorta, when part of the aorta is too narrow. Elongation of the aortic arch, a section of the body’s main artery.
Is Turner syndrome a good diagnosis?
The prognosis, or outlook, for women with Turner syndrome (TS) is usually good. Life expectancy for Turner syndrome might be slightly shorter, but by testing for and treating the conditions that come with TS, women with TS can expect to live essentially normal lives.
Can you have a second child with Turner syndrome?
It’s possible to have a second child with TS, but the risk is the same as it is for any pregnancy. You don’t have an increased risk for a second child with Turner syndrome if you have an older child with the condition.
Is Turner syndrome inherited?
Turner syndrome is a genetic disorder, but it’s usually not inherited, except in rare cases. An inherited genetic condition means that a parent (or both parents) passed down a mutated, or changed, gene. In Turner syndrome, the chromosome change happens randomly before birth.
What doctor treats Turner syndrome?
an adult endocrinologist. a cardiologist – a heart specialist. an obstetrician – a specialist in pregnancy and birth. If a girl or woman is diagnosed with Turner syndrome, the following areas may be monitored throughout her life.
What is Turner syndrome?
Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood. Bone mineral density can be measured at regular intervals using a dual-energy X-ray absorptiometry (DEXA) scan to assess any change with time.
Why is Turner syndrome important?
Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications. Some hospitals have dedicated Turner syndrome clinics with a number of specialists, including: a paediatric endocrinologist – a specialist in conditions that affect the hormones ...
Do girls with Turner syndrome have intelligence?
Most girls with Turner syndrome have a normal level of intelligence, but some may have specific learning difficulties and require extra support. It's important to get help if your daughter is affected. Not all aspects of ability are affected equally, so an experienced psychologist should be asked to give an opinion.
Can a woman with Turner syndrome have children?
Most women with Turner syndrome are unable to have children (infertile). A minority will be able to conceive naturally, so girls and women with Turner syndrome should have access to sexual health and contraception advice.
Can Turner syndrome cause hearing loss?
During childhood, middle ear infections (otitis media) are more likely to develop and need to be treated quickly. Women with Turner syndrome can lose their hearing more quickly than people without Turner syndrome may do. This can reduce their ability to interact socially.
Is Turner syndrome a high blood pressure?
Blood pressure. High blood pressure (hypertension) is quite common in women with Turner syndrome, so it's important blood pressure is checked regularly and treated, if necessary. This may be related to underlying heart or kidney problems.
What is the treatment for Turner syndrome?
Hormone Treatment Therapy. Hormone treatment therapy has become a reliable method of improving the development of patients with Turner Syndrome. They can undergo either growth hormone therapy or estrogen replacement therapy. However, both are recommended treatments to ensure that patients with TS age healthily.
How tall is a woman with Turner syndrome?
The average height of an adult woman with Turner Syndrome is 4 ft. 8 in, and 95% of all individuals with TS are affected by short stature. It is the most consistent and readily recognizable clinical feature of TS.
How long does a child with TS take growth hormone?
A child with TS will usually take growth hormone until their height velocity decreases to about 2 cm with a bone age of at least 13-14 years. Bone age does not necessarily correlate with the age of the patient, which means it is possible for a child to take growth hormone beyond 14 years of age.
What to do if you can't do injections alone?
If you can’t do the injections alone, having a support system (friends, neighbors, etc.) is helpful. Ensuring your child has a nighttime routine can also help to make things run more smoothly.
When to start progesterone treatment?
The therapy process tends to start with progesterone in the early stages of menstruation, and will continue through the adjustment of estradiol levels in the blood for the remainder of the treatment. Dosages may be increased gradually as it would with spontaneous pubertal development.
Can you get compensation for Turner syndrome?
However, the Turner Syndrome Clinical Practice Guidelines indicate that due to the medical necessity of hormone treatment in Turner Syndrome, patients who are un-insured or unable to afford the financial costs are entitled to compensation. For more information about reimbursement programs click here.
What is growth hormone treatment?
Growth Hormone treatment, [somatropin (rDNA origin) injection, often referred to as GH, is recommended for girls with Turner Syndrome and requires daily injections of growth hormone once the child drops below the 5th percentile in height. Injections are given subcutaneously at night in attempt to mimic the natural secretion ...
What are the effects of growth treatment on children?
While taking growth treatment, some changes that may occur in your child include: increased weight, increased muscle and bone mass, increased strength, increased balance and coordination, increased metabolism and appetite, and improvement in mood.
Is Turner syndrome covered by insurance?
Treatment for Turner Syndrome is considered medically necessary and is covered by most insurance companies. Pharmaceutical companies provide support to those in need. If you are uninsured or unable to afford treatment, a treating physician should provide necessary support to appeal for insurance coverage; clinical guidelines for TS indicate ...
What is the FDA approved indication for Turner syndrome?
FDA-approved indication: For the treatment of short stature associated with Turner syndrome in patients whose epiphyses are not closed. In addition, for the treatment of short stature or growth failure in children with cuases of SHOX (short stature homeobox -containing gene) deficiency whose epiphyses are not closed.
What is Turner syndrome?
Listen. Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells have one normal X chromosome and the other sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome ).
How many chromosomes does Turner syndrome have?
Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion ). Depending on the specific gene (s) that are missing, features of Turner syndrome may or may not be present. A deletion may occur sporadically (not inherited) or it may be inherited from a parent.
Can genetic testing identify Turner syndrome?
Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetics professional.
Is Turner syndrome inherited?
Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases.
What is Turner Syndrome?
The Turner Syndrome: A Guide for Families discusses growth in depth such as bone age, mosaicism and growth, growth charts, how to use a growth chart, quality of life and short stature, and best outcomes of for increased adult height in TS.
When should Oxandrolone be prescribed?
When correctly dosed, these complications can be avoided. Oxandrolone should not be prescribed before 9–10 years of age. . The information provided is based on the TS Clinical Practice Guidelines for the Care of Women and Girls with TS and reviewed by a TSSUS medical advisor in 2021.
How to contact TSSUS?
Pfizer and Genotropin. TSSUS is here to help answer other questions you may have, contact us at 1-800-365-9944 or [email protected]. We can assist in determining personal decisions regarding growth in TS and connect you to volunteers that have experience choosing or not choosing growth hormone therapy.
What age do bones fuse?
15 years of age or so, growth plates of the bones fuse together and physical growth stops. Most with TS have a delayed bone age, meaning the bones grow slower than others the same age, thus increasing the potential to grow for a longer period of time. .
Do TS produce growth hormone?
Those with TS produce growth hormone but their bodies don’t respond to it effectively. Those with a mosaic form of TS have growth failure yet their height is more variable. By 3.5 years of age, growth failure is often significant. Most (75%) of 3.5-year-olds with TS are 95% shorter than other girls the same age.
