TURNER sYNDROME By: Jazmin Barnes

What is Turner syndrome? Turner syndrome is a chromosomal condition that alters development in females. It’s 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. A gene called SHOX that is important for bone development and growth has been discovered and missing one copy of this gene very likely causes short stature and skeletal abnormalities in women with Turner syndrome. Turner syndrome occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term, like miscarriages and stillbirths.

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. They have non-functioning ovaries meaning that when the ovaries are supposed to begin to produce sex hormones, estrogen and progesterone, at puberty this doesn’t happen to those who have Turner syndrome. Without hormone treatment at the age of puberty, girls do not develop breasts or have a menstrual cycle. 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 have problems with math, memory skills, and fine-finger movements.

How is turner syndrome diagnosed? A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features from the symptom list such as webbed neck, a broad chest and swollen feet. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck, or swelling of the hands and feet. It’s diagnosed when doctors see short stature and the lack of development of the ovaries. Diagnosis is confirmed by a blood test, called a karyotype. Which is used to analyze the chromosomal composition of the female. Turner syndrome may be suspected in pregnancy during an ultrasound test. This can be confirmed by prenatal testing to obtain cells from the unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the baby may be under the care of a specialist pediatrician immediately after birth.

Is turner syndrome inherited? Turner syndrome is NOT inherited in families. Turner syndrome occurs when one of the two X chromosomes found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm. In Turner syndrome, the girl does not have the usual pair of two complete X chromosomes. The girl has only one X chromosome in her cells. Some girls with Turner syndrome do have two X chromosomes, but one of the X chromosomes is incomplete. Some have cells in their body with two X chromosomes, but other cells have only one. This is called mosaicism.

Does turner syndrome affect any body systems? Turner syndrome can affect the proper development of several body systems. Heart problems. Many girls and women with Turner syndrome were born with abnormalities in heart structure that increase their risk of serious complications. Risk factors for cardiovascular disease. Women with Turner syndrome have an increased risk of diabetes and high blood pressure. Hearing loss. Hearing loss is common among girls or women with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. Also, slight abnormalities in the shape of the skull increase the risk of frequent middle ear infections and hearing loss related to these infections. Kidney problems. About one-third of girls with Turner syndrome have some malformation of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of high blood pressure and urinary tract infections. Immune disorders. Girls and women with Turner syndrome have an increased risk of certain immune system disorders, including a condition that causes an underactive thyroid. This disorder results in the low production of hormones important for controlling heart rate, growth and metabolism. Dental problems. Poor or abnormal tooth development may lead to a greater risk of tooth loss. The shape of the roof of the mouth and lower jaw often results in crowded teeth and a poorly aligned bite. Vision problems. Girls with Turner syndrome have an increased risk of weak muscle control of eye movements and farsightedness. Skeletal problems. Problems with the growth and development of bones increase the risk of scoliosis and forward rounding of the upper back (kyphosis). Women with Turner syndrome are also at increased risk of developing osteoporosis.

How is turner syndrome treated? Growth hormone injections. Injections often begin in early childhood and may increase final adult height by a few inches. Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development. Estrogen and progesterone are given a little later to begin a monthly 'period,' which is necessary to keep the womb healthy. Estrogen is also given to prevent osteoporosis. Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. A cardiologist will assess and follow up any treatment necessary. An ear, nose, and throat specialist should be involved in caring for the women/girls diagnosed with turner syndrome. Due to the high blood pressure caused by turner, blood pressure should be checked routinely and treated with medication. Having an under active thyroid or developing diabetes should be monitored during routine health maintenance visits and treated. Regular health checks are very important.