by Dr. Gabriel M. Freitas | 06/28/2025 | Genetic and Hereditary Diseases, Special Date
Today, June 28, marks World Phenylketonuria Day, an important occasion to raise awareness about this rare, genetic, and silent disease that can cause serious neurological damage if not diagnosed and treated early. Although little known by the general public,...
by Dr. Gabriel M. Freitas | 06/16/2025 | Genetic and Hereditary Diseases
Klinefelter Syndrome is a genetic condition that exclusively affects males. It is caused by the presence of an extra X chromosome in the cells — while the typical male karyotype is 46,XY, in Klinefelter Syndrome, it is 47,XXY. This means that the individual has two X...