What is Turner Syndrome? 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. |  |
 | Symptoms: Girls who have Turner syndrome are/have: - 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. 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. -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. |
Is Turner syndrome inherited? Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally 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. Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosme (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender. In Turner syndrome, the girl does not have the usual pair of two complete X chromosomes. The most common scenario is that 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. In another scenario, the girl has some cells in her body with two X chromosomes, but other cells have only one. This is called mosaicism. |  |
 | Treatments: -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 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 heart expert (cardiologist) will assess and follow up any treatment necessary. |
