An international team of scientists has identified a gene that may be related to hypospadias, a common congenital defect of the genitourinary system in boys. This information is provided by the journal Nature Genetics.
Hypocrisy is the result of disturbances in the development of the urethra and manifests itself in the fact that its opening is not at the end of the penis, but on the underside (abdominal) side, and even around the scrotum.
This birth defect has varying degrees of severity – it may be a minor cosmetic defect, and in more severe forms, it may hinder urination and sexual activity. Most children with this disorder undergo surgery in their second year of life, but even then, medical, sexual and psychological problems may persist into adulthood.
From the report entitled The health of women at the reproductive age 15-49 from 2006 shows that in Poland the incidence of hypospadias is 13,08 per 10 thousand. live births of boys.
There have been suggestions that this defect may be caused by the effects on the fetus of chemicals in the environment. However, no decisive evidence was found on this point.
However, there are indications that this disorder is genetically determined, as boys with hypospadias more often have relatives born with this defect.
Searching for the genetic basis of more frequent forms of hypocrisy, scientists from King’s College in London and Radboud Universiteit in Njimegen (in the Netherlands), together with colleagues from Sweden and the USA, conducted genetic analyzes of 900 boys from the Netherlands, 436 of whom were found to be hypocritical. The analysis was then repeated in a group of 133 Dutch boys with hypocrisy and their relatives, as well as 266 Swedish patients with and 402 without it.
It turned out that two variants of the DGKK gene were strongly associated with the risk of hypospadias. Boys with one of them were 2 to 3 times more likely to be born with this defect than those who did not have any.
One of these variants may contribute to nearly a third of all hypoglycemic cases, the researchers have calculated.
The DGKK gene encodes an enzyme – type 2 diacylglycerol kinase, which is produced in the placenta and nuclei and regulates the balance between two fat molecules responsible for signal transmission between cells. The DGKK gene is located on the X sex chromosome, so it is passed on to sons by mothers.
We still do not know exactly how the variants of this gene contribute to hypospadias, so further research is needed to assess whether other genes and environmental factors may be involved in the development of this defect, comments co-author Dr. Jo Knight.
In turn, prof. Ieuan Hughes from Cambridge University, who was not involved in the research, believes that there are rather many genes involved in the development of hypospadias, and they interact with each other.
Joanna Morga (PAP)