Anne Skakkebæk says: “Sex chromosome aneuploidies (SCAs) are conditions where females or males have an abnormal number of sex chromosomes, like Turner syndrome (45,X) and Klinefelter syndrome (47,XXY). Patients with SCAs suffers from a range of diseases (congenital malformations, infertility, diabetes, cardiovascular diseases, psychiatric diseases). The fetal period and early childhood are critical periods with complex mechanisms regulating the activity of our genes being founded. These mechanisms have profound impact on health and disease. Our hypothesis is that altered dosage of sex chromosomes disrupt these mechanisms in the fetus and child with SCA, leading to the increased disease burden thorough out life. We will examine these mechanisms in tissues from aborted fetuses with SCAs, and in tissue samples from children with SCAs and control fetuses and control children. In addition, we will measure health outcome and other clinical measurements of the fetuses and children to answering the fundamental biological question how altered sex chromosome number leads to an increased diseases burden in SCAs.”
Anne Skakkebæk is medical geneticist at the Department of Clinical Genetics, Aarhus University Hospital, and Clinical Associate Professor at Department of Clinical Medicine, Aarhus University, since 2021.