Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function.
Other features of this condition that can vary among women who have Turner
syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the
hands and feet, skeletal abnormalities, heart defects and kidney problems.
This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).
Turner syndrome is a chromosomal condition related to the X chromosome.
Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.
What are the symptoms for Turner syndrome?
Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt.
Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl's ovaries begin to produce sex hormones (estrogen and progesterone) at
puberty. This does not happen in most girls who have Turner syndrome. They do
not start their periods or develop breasts without hormone treatment at the age of puberty.
Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.
In early childhood, girls who have Turner syndrome may
have frequent middle ear
infections. Recurrent infections can lead to hearing loss in some cases.
Girls with Turner Syndrome are usually of normal
intelligence with good verbal skills and reading skills. Some girls, however,
have problems with math, memory skills and fine-finger movements.
Additional symptoms of Turner syndrome include the following:
An especially wide neck (webbed neck) and a low or indistinct hairline.
A broad chest and widely spaced nipples.
Arms that turn out slightly at the elbow.
A heart murmur, sometimes associated with narrowing of the
aorta (blood
vessel exiting the heart).
A tendency to develop high blood pressure (so this should be checked regularly).
Minor eye problems that are corrected by glasses.
Scoliosis (deformity of
the spine) occurs in 10 percent of adolescent girls who have Turner syndrome.
The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with
thyroid replacement.
Older or over-weight women with Turner syndrome are slightly more at risk of developing
diabetes.
High blood pressure, also known as hypertension, is a repeatedly
elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above
140 with a diastolic pressure above 90. There are two causes of high blood pressure, primary and secondary. Primary high blood pressure is much more common that secondary and its basic causes or underlying defects are not always known. It is known that a diet high in salt increases the risk for high blood pressure, as well as high cholesterol. Genetic factors are also a primary cause. Secondary high blood pressure is generally caused by another condition such as renal hypertension, tumors, and other conditions. Treatment for high blood pressure is generally lifestyle changes and if necessary, diet.
Diabetes mellitus is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes are referred to as type 1 (insulin dependent) and type 2 (non-insulin dependent). Symptoms of diabetes include increased urine output, thirst, hunger, and fatigue. Treatment of diabetes depends on the type.
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
Middle ear infection or inflammation (otitis media) is inflammation fo the middle ear. There are two types of otitis media, acute and chronic. Acute otitis media is generally short in duration, and chronic otitis media generally lasts several weeks. Seventy-five percent of children in the U.S. suffer from otitis media at some point. Treatment depends upon the type (chronic or acute).
Infertility is the diminished ability to conceive a child. The primary cause of infertility in men is a sperm disorder. In women, the primary cause of infertility is an ovulation disorder. Most forms of infertility can be treated. Conventional infertility therapies include drugs or surgery.
Amenorrhea is a condition in which there is an absense of menstrual periods in a woman. There are two types of amenorrhea, 1) primary and 2) secondary. Treatment of amenorrhea depends on the type (primary or secondary). In prmiray, surgery may be an option and in secondary amenorrhea medication or lifestyle changes may be treatment options.
Aortic dissection is a small tear in the large blood vessel that leads from the heart and supplies blood to the body. There are two types of aortic dissection, type 1 and type 2. Signs and symptoms of aortic dissection include a tearing or ripping pain, nausea, sweating, weakness, shortness of breath, sweating, or fainting. Treatment depends on the type of aortic dissection, and the severity of the tear in the aorta.
The time when boys and girls begin the process of sexual maturation is called puberty. During this time, both sexes undergo a series of biological changes that include a rapid increase in height, bone growth, weight increase, the growth of pubic hair, breast development and the onset of menstruation in girls, and testicle, penis, and muscle enlargement in boys.
Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Some men with Klinefelter syndrome have no symptoms. Treatment includes educational, therapeutic, and medical therapy.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
The risks for developing type 2 diabetes include family history, ethnicity, birth weight, metabolic syndrome, and obesity. Warning signs pointing to an increased risk for developing type 2 diabetes include irregular menstruation, impaired fasting glucose, inflammatory markers, and other risks. Gestational diabetes is also a risk factor for developing type 2 diabetes later in life. Prevention of type 2 diabetes can be achieved through a healthy diet (Mediterranean diet), exercise, weight control, not smoking, and medication.
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in chestbone, webbing of the neck as well as heart and blood vessel defects. Named after Dr. Jacqueline A. Noonan it is inherited as an autosomal dominant disorder. The Noonan gene (NS1) is on a nonsex (autosomal) chromosome (number 12) and is transmitted from a parent with a 50% probability to boy or girl. Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present.
The aorta is the large blood vessel that leads from the heart and carries
blood to the rest of the body. The aorta originates at the aortic valve at the
outlet of the left ventricle of the heart. It ascends in the chest to an arch
where blood vessels branch off to supply blood flow to the arms and head. It
then begins to descend through the chest and into the abdomen, where it splits
into two iliac arteries that provide blood flow to the legs. Along its descent,
more small arteries branch out to supply blood to the stomach, intestine, colon,
kidneys, and the spinal cord.
The aorta has a thick wall, with three layers of muscle that allow the blood
vessel to withstand the high pressure that is generated when the heart pumps
blood to the body. The three layers are the tunica intima, tunica media, and the
tunic adventitia. The intima is the inside layer that is in contact with the
blood, the media is in the middl...
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