In 1938, physician Henry Hubert Turner published “A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus Valgus,” hereafter “A Syndrome of Infantilism,” in the journal Endocrinology, in which he described a condition that researchers later named Turner syndrome. Turner syndrome is a genetic condition that affects biological females, characterized by a partially or completely missing X chromosome. In the paper, Turner describes a previously unrecognized set of symptoms in seven different females, including a lack of physical and sexual development, infertility, webbed neck, and elbow deformities, among others. Turner also records various methods of hormone treatments for his patients, such as growth hormone and estrogen injections. “A Syndrome of Infantilism” was one of the first published descriptions of Turner syndrome, a developmental condition that affects one in 2,500 live female births globally, and highlighted the use of hormone treatments to promote the development of stunted physical and sexual growth.
Étienne-Louis Arthur Fallot was a physician working in France during the late nineteenth century who studied and described the four cardiac anatomical defects that cause the congenital anomaly known as the Tetralogy of Fallot. Those four heart defects result in deoxygenated blood recirculating through the body, giving the skin a blue-like color, a process called cyanosis. Numerous physicians and researchers before Fallot had identified and described the anatomical cardiac defects that would eventually be included in the Tetralogy. However, Fallot was among the first to note that the four anatomical heart defects tended to occur together. Through autopsy investigations, Fallot established the Tetralogy as one unified pathology rather than four unrelated anatomical abnormalities, providing a basis for the eventual surgical treatment of the condition, which affects approximately four out of every one thousand births worldwide.