• The only way to survive is with monosomy; Turner syndrome
  • fatemeh farahani,1 Mohadese Farahani,2,*
    1. Arak University
    2. Arak University


  • Introduction: As an illustrative and preliminary explanation about Turner syndrome, it can be said that the absence of X chromosome in women is the phenotype of Turner syndrome. But is Turner's syndrome seen only in the form of deletion of the x chromosome? No, this is not the case, we will read more detailed explanations. Turner syndrome, the only monosomy that can survive, is an attractive topic for research and investigation, so many researches have been written in this field on topics such as causes, genetics, symptoms and treatment. But the emptiness of an article with simple language and content classification in this field is felt, so the next article deals with this matter.
  • Methods: To write this article, we first reviewed the articles related to this topic in Google Scholar. We selected these articles from 2019 until now and then categorized and reviewed them. In this search, we used terms such as: Turner syndrome, Turner syndrome symptoms, Turner syndrome treatment methods, Turner syndrome genetics.
  • Results: The discovery of Turner syndrome is attributed to Mr. Henry Turner in 1938. The genetics of Turner syndrome is such that there is no x chromosome or it is incomplete, and to be more precise: the karyotype of Turner syndrome can be seen in different forms, the common point of all of them is the lack of x chromosomal material. including complete deletion of an x chromosome (45,x) or its mosaics 45,X/46,XX; 45, X/47, XXX)), the presence of p or q arm isochromosome, ring-shaped chromosomes, the presence of y chromosomal material and other complex cases. There are different types of Turner's syndrome states with different percentages in sufferers: about 40-50% of affected women have 45,x karyotype. 15 to 25% have mosaic state 45,X/46,XX and about 3% with 45,XX/46XY state and 20% as irzochromosome and also 10 to 12% have different amounts of Y chromosomal material. It is noteworthy that 99% of people with Turner syndrome (x45) spontaneously abort in the first trimester of pregnancy and only 1% of them are born. Although this number of people with Turner syndrome survive, they have the following symptoms: Short stature (about 20 cm shorter than normal), webbed neck, elbow deformity, late puberty, ovarian dysgenesis, infertility, congenital heart abnormalities, exocrine gland disorders, diabetes, osteoporosis, and autoimmune disorders. Turner syndrome also affects people's relationships. Sufferers usually have delayed social and emotional development and have problems in social understanding. These problems affect the ability of these women to adapt to society's demands, such as marriage, etc. In the field of Turner's syndrome treatment, growth hormone is usually used to increase height (even in adults), and in addition, the use of estrogen is also necessary to induce puberty. Also, various researches are being conducted in the field of having children of these people.
  • Conclusion: In this article, we have tried to provide the basic information required for any researcher who wants to have comprehensive information about Turner syndrome. In the next articles, it is better to address issues such as the treatment of this disease with new methods such as gene therapy, etc. better and more widely. Also, to improve the treatments that are done today, such as hormone therapy, by raising questions such as when is the best time for hormone therapy or what is the best method for quick and timely diagnosis of this disease.
  • Keywords: Turner syndrome. Genetics . X chromosom