Turner syndrome: what it is and what are the symptoms
Turner syndrome is one of the most common forms of chromosome number abnormalities. Normally, female people have one pair of sex chromosomes (XX) and 22 pairs of non-sex chromosomes (autosomes), for a total of 46 chromosomes. Women with Turner syndrome have only one X chromosome or an intermediate situation in 50-60 percent of cases, whereby the second X chromosome is missing only in some cells or is present in a partially truncated version. It is estimated that it affects one person in two thousand. About 98 percent of all fetuses with Turner syndrome experience a miscarriage. Turner syndrome can be diagnosed by amniocentesis during pregnancy.
Turner syndrome in pregnancy: how to find out
Amniocentesis and CVS are the most common prenatal exams, to detect early possible diseases or malformations in the fetus, such as Turner syndrome. In this video, we explain when it is time to carry out each of the two tests, and because.
See also
Symptoms to recognize it and risk factors
Among the characteristics of those suffering from Turner Syndrome there are several elements that can be taken as "symptoms", such as short stature, swollen hands and feet, large chest, low hairline, low ears, amenorrhea, infertility, congenital heart disease , hypothyroidism, diabetes, strabismus, hearing problems, increased risk of thyroid disease, learning disabilities. In the mosaic forms the symptoms can be more nuanced.
The risk factors for Turner syndrome are not well known. The syndrome is not hereditary, as affected women are usually infertile. The loss of one of the X chromosomes happens randomly when gametes develop. In most cases, the residual X chromosome is that of maternal origin, in general, so Turner syndrome is the result of the encounter of a normal oocyte with a sperm without a sex chromosome.
Turner syndrome in women
Most girls with Turner syndrome need specific medications and regular checks to improve their quality of life and gain some independence. The administration of drugs formulated with growth hormone can promote development during adolescence and hormone replacement therapy can certainly improve the physical presence of the patient. Hormone replacement therapy, with estrogen and progesterone, should be followed throughout life, until the indicative age of menopause is reached.
