Scientists have recently made a new discovery, finding that a change in a single gene in the human body may be the reason that the male fetus, the embryo begins to develop like a female.
This breakthrough in genetics will improve current diagnosis and clinical management of the patients with significant impairments in the development of the reproductive system (DSD). Such variations occur when the testes or ovaries is not functioning properly in the embryo, thus causing, genital anomalies in the formation of about one 4,500 children.
The international research team, including members of the University of Melbourne in the Murdoch Children’s Research Institute, identified a gene variation in a voluntary group of patients that included two families, some of whom were members of this genetic change.
The change occurred in a gene called MAP3K1, which plays an important role in the process of switching genes, which allows the ovary to become testes. A male under normal conditions of development I have one X and one Y chromosome, and female - have two chromosome X. But the researchers found that the change in MAP3K1 gene disrupted the normal process of egg development, formation of a male fetus XY, changing it in female characteristics, including the appearance of the female genitalia and the manifestation of the external female characteristics.
Professor Andrew Sinclair (Andrew Sinclair), chief researcher at the University of Melbourne and Murdoch Children’s Research Institute said the discovery pointed to the root cause of a defect in the development of the testes in these patients, in the future, in his view, should help maintain accurate diagnosis and lead to complete clinical control of rare but unpleasant cases.
"So far, we know of the existence of only a few genes that are involved in the development of the ovary, and could diagnose only about 20 percent of patients with developmental reproductive system" - he said.
"Based on the information and results of our analysis, we believe that the MAP3K1 gene mutation will help us in the diagnosis of an additional 20 percent of cases of XY DSD. This is - a great breakthrough in the field of genetics, as the MAP3K1 gene provides a different understanding of the normally accepted form of eggs and, importantly, increases the number of cases of sexual disorders that we can diagnose in the future. " Analysis published by researchers in the journal American Journal of Human Genetics, was conducted in collaboration with the Women’s and Children’s Hospital Adelaide, School of Medicine, New Yrgskogo University Center University Hospital of Nantes, France.
Original: Newsroom Translation: M. Potter