Specialist: Identifying 29 genetic mutations that cause birth defects in the reproductive organs

A recent and in-depth medical study conducted by a Saudi team at King Faisal Specialist Hospital and Research Center in Riyadh was able to identify 29 genetic 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 of one medical center in the Middle East and that their genetic causes have not been addressed with such accuracy before. The study was conducted 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, namely, Dr. Afaf Al-Saghir, Dr. Ohood 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 research study, which was recently published in the Journal of Steroid Biochemistry and Molecular Biology, allows identifying the genetic defect in the reproductive system. The newborn child with this congenital defect gives the medical team the ability to identify the genetic cause of these birth 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 finding 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 treatment of 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 a basis Data for the most frequent gene defects and occurrence 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 said, “The psychological and social future of children with congenital defects of the reproductive organs depends on many factors, including when the problem is revealed, and that the earlier the detection and therefore the early treatment intervention, the less psychological its impact on the patient and vice versa, that is, the patient’s psyche is without Doubt will be affected if the detection and treatment are late, ”pointing out the importance of expediting the referral of the patient suffering from these diseases to a specialized surgically and medically appointed body.


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