More information about this will be discussed in the section "Is Turner syndrome inherited? 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. Girls who have Turner syndrome are more likely to get middle ear infections.
Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist ENT may be involved in caring for this health issue. High blood pressure is quite common in women who have Turner syndrome. In some cases, the elevated blood pressure is due to narrowing of the aorta or a kidney abnormality. However, most of the time, no specific cause for the elevation is identified.
Blood pressure should be checked routinely and, if necessary, treated with medication. Women who have Turner syndrome have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored during routine health maintenance visits and treated if necessary.
Regular health checks are very important. Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important. Having appropriate medical treatment and support allows a woman with Turner syndrome to lead a normal, healthy and happy life. Turner syndrome is a female-only genetic disorder that affects about 1 in every 2, baby girls. A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2.
This chromosome variation happens randomly when the baby is conceived in the womb. It is not linked to the mother's age.
Read more about the genetic cause of Turner syndrome. Females without Turner syndrome have 2 full X chromosome in all of their cells, and males have one X chromosome and one Y chromosome. The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing the second sex chromosome in all of their cells. This is also referred to as having monosomy X. This form results from a random error in an egg or sperm cell prior to conception.
Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece has a deletion. Depending on the specific gene s that are missing, features of Turner syndrome may or may not be present.
A deletion may occur sporadically not inherited or it may be inherited from a parent. Mosaic Turner syndrome when some cells have one X chromosome and some have two sex chromosomes is caused by a random error in early fetal development shortly after conception.
It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women.
References References. Turner syndrome. Description Turner syndrome is a chromosomal condition that affects development in females. Frequency This condition occurs in about 1 in 2, newborn girls worldwide, but it is much more common among pregnancies that do not survive to term miscarriages and stillbirths. Causes Turner syndrome is related to the X chromosome , which is one of the two sex chromosomes.
Inheritance Most cases of Turner syndrome are not inherited. Research Studies from ClinicalTrials. References Bondy CA.
New issues in the diagnosis and management of Turner syndrome. Rev Endocr Metab Disord. Turner syndrome Horm Res. Epub Jan J Clin Endocrinol Metab. Epub Oct Turner syndrome: an update and review for the primary pediatrician. Clin Pediatr Phila. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the Cincinnati International Turner Syndrome Meeting.
Eur J Endocrinol.
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