What is Turner syndrome?
Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome. The syndrome is named after Dr. Henry Turner, who was among the first to describe its features in the 1930s. TS occurs in approximately 1 in2,000 live female births and in as many as 10% of all miscarriages.
How is Turner syndrome diagnosed?
Diagnosis is made through a test called a karyotype, which is usually performed on cells in the amniotic fluid before birth and on cells in the blood after birth. A trained specialist counts the chromosomes in the white blood cells and looks for abnormalities. Females normally have two X chromosomes (46,XX) and males have one X and one Y (46,XY). Turner Syndrome individuals are missing all or part of one of their sex chromosomes. About half of girls with Turner syndrome have only one X chromosome (45,X). Another third have two X chromosomes, but part of one X is missing. Other individuals with Turner Syndrome have a mosaic pattern: some of their cells are missing an X chromosome (45,X), while other cells have different chromosome composition (such as 46,XX)
Turner Syndrome may be diagnosed throughout the life span, including adulthood, if signs are subtle. Signs that indicate a karyotype is needed can include:
Fetal abnormalities such as cystic hygroma (fluid around the neck), or incidentally when a routine amniocentesis is performed (e.g., for advanced maternal age)
Webbed neck or lymphedema (swelling of hands and feet) in newborns
Specific heart problems in infants
Slow growth and/or short stature
Delayed puberty or amenorrhea (lack of menstrual cycles)
Infertility or menstrual irregularities.
What are the primary characteristics of Turner syndrome?
The most common feature of Turner syndrome is short stature. The average height of an adult TS woman who has received human growth hormone treatment is 4’8”. Individuals tend to be a little shorter at birth, averaging 18.5” compared to an average of 20” for all girls. Growth failure continues after birth, and most girls with TS fall below the normal female growth curve for height during early childhood. TS girls who are not treated with hormone replacement usually do not have a pubertal growth spurt; many will continue to grow at a slow rate until they are in their twenties. Many girls who undergo growth hormone treatment have been able to achieve adult height within the lower range of normal.
Premature ovarian failure
Most (90%) TS individuals will experience early ovarian failure. The ovaries produce eggs and hormones necessary for the development of secondary sexual characteristics. Estrogen replacement therapy is necessary for breast development, feminine body contours, menstruation and proper bone development. About a third of TS individuals will show some signs of breast development without estrogen treatment; however, many will not complete puberty, and those that do often have premature ovarian failure. Therefore, the majority of individuals will require estrogen from puberty until the normal age of menopause. Fertility without assisted reproduction therapy is rare (less than 1%).
Many characteristic features are associated with Turner syndrome. Their presence and severity vary greatly from individual to individual.
Narrow, high-arched palate (roof of the mouth)
Retrognathia (receding lower jaw)
Slight droop to eyes
Strabismus (lazy eye)
Cubitus valgus (arms that turn out slightly at the elbows)
Scoliosis (curvature of the spine)
Small, narrow fingernails and toenails that turn up
Short fourth metacarpals (the ends of these bones form the knuckles)
Edema of hands and feet, especially at birth
Intelligence - TS individuals are on average of normal overall intelligence with the same variance as the general population. They do, however, often have difficulty with spatial-temporal processing (imagining objects in relation to each other), nonverbal memory and attention. This may cause problems with math, sense of direction, manual dexterity and social skills. New and better ways to compensate for these problems, which fall under the general category of nonverbal learning disabilities, are being researched.
What are the associated risks with Turner Syndrome?
Several medical problems occur more frequently in individuals with Turner syndrome than in the general population. It is important that TS individuals are screened regularly to see if any of these problems exist. Most of these conditions can be managed successfully with good medical care.
Some form of cardiac abnormality occurs in approximately one-third of TS patients. Problems are primarily left-sided and may include coarctation (narrowing) of the aorta and bicuspid aortic valve (a valve with two leaflets instead of the usual three). TS individuals are also at higher risk for hypertension or high blood pressure. TS patients should receive an echocardiogram or MRI to evaluate the heart at the time of diagnosis regardless of age and have their heart re-evaluated periodically for aortic root enlargement. All individuals with TS should be aware of the symptoms of dissection of the aorta, an uncommon but life-threatening complication. These include sudden, severe, sharp, stabbing, tearing, or ripping chest pain, intense anxiety, rapid pulse, profuse sweating, nausea and vomiting, dizziness, fainting or shortness of breath.
Thirty percent of TS individuals will have kidney abnormalities. Many of the abnormalities do not cause any medical problems; however, some may result in urinary tract infections and an increased risk of hypertension. It is recommended that TS individuals receive a renal ultrasound examination at the time of diagnosis.
Hypothyroidism (low level of thyroid hormone) caused by autoimmune thyroiditis (inflammation of thyroid gland) occurs frequently in individuals with TS. It can be diagnosed with a blood test and is easily treated with thyroid hormone.
Otitis media (ear infection) is extremely common in TS girls particularly in infancy and early childhood. Aggressive treatment of infections is appropriate. The majority (50-90%) of TS women will also develop early sensorineural (nerve) hearing loss and may require hearing aids earlier than the general population.
How can Turner Syndrome be treated?
The treatment of TS individuals should be individualized; physicians, family and patients should decide on treatment options together.
Growth hormone therapy
Human growth hormone (hGH) is an FDA-approved drug used to increase the growth rate and achieve greater final height in TS patients. Therapy should be considered when a TS individual experiences growth failure and/or drops below the 5th percentile of the normal female growth curve. The expected increase in height depends upon many factors, including how early GH is started, what dose is given, the duration of treatment, if anabolic steroids (such as oxandrolone) are also given, and how late estrogen therapy is begun. Gains in height between 5 and 16 cm (2 and 6 inches) have recently been reported; however, not every individual responds to growth hormone. Treatment is discontinued when growth is very slow(less than 2 cm or 1 inch per year) or if the patient has reached a satisfactory height.
This therapy is necessary in most TS individuals because of ovarian failure. Therapy is typically begun at 12-14 years of age but should be individualized to optimize both growth and pubertal development. Estrogen is given in small doses to initiate puberty and breast development. The dose is then increased and progesterone is added in order to initiate a monthly menstrual cycle. TS individuals can experience normal sexual function on estrogen therapy. Because of the role estrogen plays in maintaining healthy bone mass, it is generally recommended that the therapy continue until the age of normal menopause around 50.
Many options are available to TS women who wish to have children. The most common fertility solution for TS women is adoption. There are now also assisted reproduction technology options for TS women who wish to become pregnant. They include in-vitro fertilization with egg donation by a related or anonymous donor or donor embryo transfer. It is critical that a TS patient undergo a thorough physical evaluation (particularly cardiac and renal) before attempting pregnancy.
With the help of medical specialists and a good social support system, a woman with Turner syndrome can live a happy, healthy life.
Full article here.