Turner and Klinefelter Syndrome
Turner Syndrome
Intro
Turner Syndrome is a genetic disorder involving a chromosomal defect in females. Turner Syndrome occurs when a woman is missing part or all of an X-chromosome. Though this disease has a wide range of side effects, the most common are physical characteristics such as short height and incomplete development. It all depends on how many of the body's cells are affected by the changes to the X chromosome. This disease affects one in every 2,500 - 3,000 girls, with 800 affected births each year.
Characteristics
• Girls with Turner syndrome are usually short in height. Those who aren't treated for short stature reach an average height of about 4 feet 7 inches (1.4 meters). The good news is that when Turner syndrome is diagnosed while a girl is still growing, she can be treated with growth hormones to help her grow taller.
• In addition to growth problems, Turner syndrome prevents the ovaries from developing properly, which affects a girl's sexual development and the ability to have children.
Additional symptoms of Turner syndrome include the following:
• An especially wide neck (webbed neck) and a low or indistinct hairline.
• A tendency to develop high blood pressure (so this should be checked regularly).
• Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome.
• Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
• A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart)
Treatment
• During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism.
• Growth hormone injections are beneficial in some individuals with Turner syndrome. Injections often begin in early childhood and may increase final adult height by a few inches.
• Estrogen replacement
Intro
Turner Syndrome is a genetic disorder involving a chromosomal defect in females. Turner Syndrome occurs when a woman is missing part or all of an X-chromosome. Though this disease has a wide range of side effects, the most common are physical characteristics such as short height and incomplete development. It all depends on how many of the body's cells are affected by the changes to the X chromosome. This disease affects one in every 2,500 - 3,000 girls, with 800 affected births each year.
Characteristics
• Girls with Turner syndrome are usually short in height. Those who aren't treated for short stature reach an average height of about 4 feet 7 inches (1.4 meters). The good news is that when Turner syndrome is diagnosed while a girl is still growing, she can be treated with growth hormones to help her grow taller.
• In addition to growth problems, Turner syndrome prevents the ovaries from developing properly, which affects a girl's sexual development and the ability to have children.
Additional symptoms of Turner syndrome include the following:
• An especially wide neck (webbed neck) and a low or indistinct hairline.
• A tendency to develop high blood pressure (so this should be checked regularly).
• Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome.
• Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
• A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart)
Treatment
• During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism.
• Growth hormone injections are beneficial in some individuals with Turner syndrome. Injections often begin in early childhood and may increase final adult height by a few inches.
• Estrogen replacement