Çukurova University Faculty of Medicine Prof. Dr. Osman Demirhan discovered a rare genetic disease in the skeletal system.
According to the statement made by the university, Demirhan, a faculty member in the Department of Basic Medical Sciences, Department of Medical Biology and Genetics, determined that the skeletal system was damaged as a result of a new homozygous mutation in the gene.
GOES TO THE LITERATURE AS DEMİRHAN SYNDROME
In the research, it was revealed that the genetic disease was accompanied by sexual organ disorders. Demirhan’s research, which was also published in scientific journals and articles, entered the medical literature as “Demirhan Syndrome”.
In the statement, Prof. Dr. Demirhan said, “The frequency of rare skeletal diseases has been reported to be approximately one in 5,000. However, in our country where consanguineous marriages are high, the incidence of skeletal diseases is estimated to be much higher than reported in the literature.” used the phrase.
TALKED ABOUT THE DETAILS OF THE RESEARCH
Demirhan stated that the skeleton was examined under 42 groups according to clinical, radiological and molecular criteria of genetic diseases and said:
“In this study, a 16-year-old girl from a very consanguineous family had a serious arm and leg deformity consisting of folding of her fingers, lack of development of the fibula bone, severe finger contractions, joint loss in the hands, and fusion of the wrist and ankle bones. However, it was determined that the ovaries did not develop and there was little development of the ovaries. She had a developed uterus. Endocrinological findings revealed that her ovaries did not produce enough hormones or reproductive cells.”
“WE ARE PROUD”
Informing that the patient’s parents, his uncle’s children and 2 of his 4 siblings are carriers in terms of defective genes, Demirhan said, “We are proud to have found an important disease within the scope of rare diseases in the field of genetics and introduced it to medical science and literature as ‘Demirhan Syndrome’.” made its assessment.