Introduction: Turner syndrome is a genetic disorder. This disease is the most common chromosomal disorder in humans.
Turner syndrome has a great impact on the development of women.
The most common feature of people with the disease is short stature, which is characterized by the age of 5 years. In many patients, normal ovarian function is lost. Initially, the ovaries develop normally. But egg cells usually die before puberty, and most ovarian tissue decays before birth.
Most affected girls are immature if they do not receive hormone therapy, and many are unable to conceive.
A very low percentage of affected women regain their ovarian function by middle age.
Cause of this disorder:
Typically, women have two identical sex chromosomes.
These two chromosomes are called XX.
Typically, men have one X chromosome and one Y chromosome.
These two chromosomes are called XY.
In Turner syndrome, cells lose all or part of the X chromosome. This disease is seen only in women.
Some physical characteristics of people with Turner syndrome:
About 30% of women with Turner syndrome have a draped neck, low back line on the back of the neck, puffiness or
Swelling (lymphoma) of the hands and feet, skeletal abnormalities, or kidney problems.
Some people are born with a heart problem that can be very dangerous.
Most affected women have normal intelligence.
Developmental delays, learning disabilities, and behavioral problems may also occur. These symptoms vary from patient to patient.
Types of Turner syndrome:
1_Classic Turner syndrome in which the X chromosome is completely absent.
2_ Turner Mosaic Syndrome, abnormalities that occur only on the X chromosome in some cells of the body.
What causes chromosomal changes in Turner syndrome?
It can happen for two reasons:
1_ A monosome where the X chromosome may not be passed on to the baby girl due to abnormalities in the father's sperm or the mother's egg. Therefore, the child has only one single X chromosome and thus he will suffer from Turner syndrome.
2_ Mosaicism that during the process of cell division, some mutations and errors in fetal growth may occur.
Thus, the body loses a copy of the X chromosome. A missing or altered X chromosome in a baby girl can cause complex health problems. Some of the health effects of this chromosomal error include short stature and ovarian failure.
Ways to diagnose this syndrome:
In medical genetics laboratories, Turner disorder can be detected by evaluating and analyzing chromosomes by various molecular methods.
Diagnosis of this syndrome before fetal birth can be performed through techniques such as karyotype, QF-PCR and MLPA Is done.
If ultrasound and trimester screening of a woman during pregnancy are positive, diagnosis before Birth is done with one of the techniques mentioned. This can be done by analyzing the fluid around the fetus Did.
Diagnosis of Turner syndrome after birth is usually made by determining the peripheral blood karyotype and chromosomal examination of the individual.
The study of this syndrome can be done non-invasively on the mother's blood serum. Depending on the indications Relevant (dual serum markers + special ultrasound called NT) fetal health test or multi-test Advanced NIPT can be done.
Methods: by study and review articles
Results: Diagnosis of this syndrome before birth can be done by methods such as karyotype, QF-PCR, MLPA.
It can also be detected after birth by determining the peripheral blood karyotype and chromosomal examination.
Conclusion: This disease affects one of the female sex chromosomes and is due to the lack of an X chromosome in girls, which causes them to be short and reach puberty and infertility later.