Turner Syndrome/Gonadel Dysgenesis

1 out of 2500 female births will be diagnosed with Turner Syndrome, a chromosomal condition that is caused by the partial or complete absence of the second sex chromosome. Turner Syndrome is also known as Gonadel Dysgenesis, which is the failure of the ovary to develop, and can be loosely applied to primary amenorrhea (the absence of menstruation). An estimated 6000 women in Canada currently have Turner syndrome.

Turner Syndrome carriers are usually missing one X chromosome, also called the monosomy X, or the 45 chromosome. Diagnosis is usually made through amniocentesis, a test performed on the cells in the amniotic fluid during pregnancy, and on the infant’s blood cells after birth. Turner Syndrome can be diagnosed through karyotyping, a process during which cells are counted and assessed for abnormalities.

Turner Syndrome can also be detected throughout adulthood when signs present themselves. Symptoms that may indicate Turner Syndrome in infants include: fluid around the neck, swelling of the hands and feet, and heart problems. Young children with Turner Syndrome are often smaller in size in comparison to other children of the same age. Hearing problems and recurrent ear infections may also be a sign of Turner Syndrome in young children. In adolescence, Turner Syndrome can cause delayed puberty or amenorrhea, infertility or menstrual irregularities.

Adults with Turner Syndrome may not menstruate regularly, may be of smaller stature, may have problems with fertility as well as hearing, and may suffer from heart and blood problems.

There is no reason why a woman with Turner syndrome can’t lead a full and healthy life, and this condition is not usually inherited from family members. The cause of Turner Syndrome is not precisely known; there is only speculation that Turner Syndrome is the result of an error in the formation of either the egg or the sperm.

90% of women with Turner syndrome suffer with ovarian failure, which means their ovaries are incapable of producing the hormones needed to create eggs. The reproductive organs of women with Turner Syndrome are normal in every other aspect, and with egg donation and hormone therapy, most women are able to maintain normal, healthy pregnancies.

Hormone therapy is also necessary to stimulate puberty within girls affected by Turner Syndrome. This therapy is usually applied between the ages of 12-14 in addition to the introduction of Estrogen in small doses to begin breast development, and progesterone to start a monthly menstrual cycle. Estrogen therapy is also used in these cases to aid and support bone growth and should be used well into menopause to help prevent the onset of osteoporosis.

Unfortunately, infertility is not the only risk that accompanies Turner Syndrome. Patients diagnosed with Turner Syndrome are also at risk of high blood pressure and problems with major blood vessels, including the rupture of the aorta, diabetes, and osteoporosis. Some may suffer from kidney and urinary tract problems, feeding problems during their infant stage, pigment moles on the skin, eye problems, cataracts, obesity, curvature of the spine, broad chest, and problems with social skills and development.

It is best to consult your doctor if you have any questions or concerns about this condition.

http://www.turnersyndrome.org
http://www.turnersyndrome.ca/turnerssyndrome.html