A recent and in-depth medical study conducted by a Saudi team at King Faisal Specialist Hospital and Research Center in Riyadh identified 29 gene mutations that cause birth defects in the reproductive organs in 9 different genes, half of which are genetic mutations that were not previously described.The research team explained that the number of genetic mutations described in this research study is the largest than one medical center in the Middle East, and that their genetic causes have not been addressed with such accuracy before.
The study was carried out by a medical and research team consisting of the principal investigator of this study, a consultant endocrinologist and metabolism, the executive director of the research center, Dr. Ali Al-Zahrani, the researcher, Mashael Al-Swailem, and consultants of pediatric endocrinology and metabolism in the hospital, and they are: Dr. Afaf Al-Soghair, Dr. Ohoud Al-Zahrani, and Dr. Bassam Saleh Bin Abbas.
Dr. Bassam Saleh bin Abbas, a member of the research team and consultant in endocrinology and pediatric metabolism at King Faisal Specialist Hospital and Research Center, stated that the recently published research study in the Journal of Steroid Biochemistry and Molecular Biology allows identifying the genetic defect in the reproductive system of The newborn child with this congenital defect, and gives the medical team the ability to identify the genetic cause of these congenital defects of the incomplete genital organs immediately after birth, thus avoiding the child and his family, its social consequences and its painful psychological repercussions.
He added that reaching the genetic causes of these congenital defects of the reproductive system will contribute to early detection of these diseases and the possibility of avoiding them in the next pregnancy, and expediting early medical and surgical intervention for them.
He pointed out that the birth defects of these organs may be similar by looking at them externally, except that their genetic causes may be different, and that accurately identifying the genetic cause helps in some cases to determine the future identity of this child, whether male or female, and this study and others establish For a database of the most frequent gene defects and occurring in the community, which makes it easier for the medical staff specialized in this field to go directly to the detection of these genes without others. Dr. Bin Abbas explained that the psychological and social future of children with congenital defects of the genitals depends on many factors, including when the problem is detected, and that the earlier the detection, the earlier the therapeutic intervention, which reduces the psychological impact of the patient.