Isidore Geoffroy Saint-Hilaire studied anatomy and congenital abnormalities in humans and other animals in nineteenth century France. Under the tutelage of his father, Etienne Geoffroy Saint-Hilaire, Isidore compiled and built on his father's studies of individuals with developmental malformations, then called monstrosities. In 1832, Isidore published Histoire generale et particuliere des anomalies de l'organisation chez l'homme et les animaux (General and Particular History of Structural Monstrosities in Man and Animals), in which he defined the term teratology as the study of birth defects and deformities. Isidore Geoffroy Saint-Hilaire established teratology as a legitimate branch of scientific study.

During the nineteenth century, Karl Freiherr von Rokitansky conducted research on the causes of disease by performing approximately 30,000 autopsies, a practice that many people opposed at the time. Rokitansky performed his research in pathology, or the study of disease, and morbid anatomy, or the study of dead bodies, in Vienna, then part of the Austrian Empire and later part of Austria. In 1860, Rokitansky studied the growth of abnormal uterine tissue, and was one of the first to detect endometriosis, or endometrial tissue growth outside of the uterus, which helped future researchers further identify and understand endometriosis.