Turner syndrome
| Turner syndrome | |
|---|---|
| Specialty | Medical genetics  |
Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X is the most common. It occurs in 1 out of every 2500 female births[1]. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional. This is called 45,X or 45,X0, although other genetic variants occur. In Turner syndrome, female sexual characteristics are present but generally underdeveloped.
Treatment
As a chromosomal condition, there is no "cure" for Turner syndrome. However, much can be done to minimize the symptoms. For example:
- Growth hormone, either alone or with a low dose of androgen, will improve growth and probably final adult height. Growth hormone is approved by the Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans.
- Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. However, its use has not been proven useful, and remains controversial[2]
- Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.
Sources
References
- ^ National Institutes of Health (2004). "Clinical Features of Turner syndrome". Retrieved 2006-07-17.
- ^ Collier JAB, Longmore JM, Duncan Brown TJ. Oxford Handbook of Clinical Specialties, 5th ed. Oxford University Press, 1999.
See also
- Other human sex chromosome aneuploids:
- XYY syndrome
- Klinefelter's syndrome (XXY or XXXY)
- Turner syndrome (X0)
- Triple X syndrome
- Dermatoglyphics
- Law & Order: Special Victims Unit "Clock" episode (season 8, episode 2)
- Noonan syndrome, a disorder which is often confused with Turner syndrome because of several physical features that they have in common.
External links
- Stanford University Turner Syndrome Research
- Turner Syndrome at the National Institute of Child Health and Human Development
- Recent research in Turner Syndrome
- Noonan Syndrome (Turner syndrome with normal Karyotype) at OMIM
- Genetic and Rare Disease Information Center (NIH) Has several US government links to Turner syndrome.
- Medical Encyclopedia
- Turner Syndrome Society of the United States
- Endocrine and Metabolic Diseases Information Service