What is World Turner Syndrome Day? Turner Syndrome day, which is the scene of events on August 28 every year, and general information about Turner Syndrome.
Every August 28th marks World Turner Syndrome Day , a genetic disease that only affects women and affects one in 2,500 girls . The purpose of this day is to raise awareness and sensitization of the public about this disease and to encourage research in this area.
What is Turner syndrome?
It is a chromosomal change that consists of the complete or partial absence of the X chromosome. Girls and women with Turner syndrome have specific features such as short stature (20 cm less than normal) and gonadal dysgenesis that affects ovarian formation. The syndrome takes its name from the endocrinologist Henry Turner , who described this pathology in 1938 .
In general, people with Turner Syndrome are short, short-necked, and broad-chested in childhood, and often have congenital heart disease. Most prominent in newborns is swelling on the back of the hands and feet.
During puberty, their sexual organs do not develop and they do not menstruate, so they cannot be fertilized. In addition, high blood pressure, diabetes , kidney or eye disorders are more common in these patients.
It was said in the past and due to the unknown of the disease that these patients had cognitive difficulties, but this could actually be due to emotional disturbances due to physical differences, which in turn could lead to learning difficulties.
The importance of early diagnosis for Turner syndrome
Early diagnosis and treatment can help people with Turner syndrome improve their quality of life. New diagnostic methods such as ultrasound make it possible to diagnose the disease even before birth.
And treatments consist of growth hormones to improve size and sex hormones to improve sexual characteristics. With all this and adequate psychological treatment, people with Turner syndrome can lead a normal life.
In rare cases, a parent silently carries rearranged chromosomes that can cause Turner syndrome in a daughter, but this is the only case where Turner syndrome is inherited. It is generally not hereditary. The exact cause of Turner syndrome is unknown. Today there are two theories: meiotic and mitotic theory:
The theory of meiosis states that during the formation of the egg or sperm (gametogenesis), one of them may have undergone a mistake and did not carry an X chromosome. If the egg or sperm had lost this chromosome, the individual would have said it was absent. (45, X0)
The mitotic theory, on the other hand, assumes that the loss of one of the chromosomes does not occur in the gametes (egg or sperm), but occurs later, during the early stages of embryonic development (in the first weeks of pregnancy). . This explains the mosaicism present in most of these patients; that is, the presence of cells with different genetics and chromosomal content, cell populations with a single X chromosome, and populations with two of these (46, XX/45, X0) in the same individual.
The most recent research supports the second theory, not the first. In 75% of cases, the missing X chromosome is of paternal origin.