Henry Hubert Turner was a physician and researcher who studied hormones and human development in Oklahoma City, Oklahoma, during the twentieth century. He was one of the first people to classify Turner syndrome, which is a genetic condition that occurs when someone has a specific atypical chromosomal pattern, and as of 2024, affects one in 1,500 to 2,500 female births. Turner syndrome results in a biological female completely or partially missing one of their X chromosomes. Many researchers label it an intersex condition, or a condition in which someone has atypical male or female sex characteristics, such as different sex chromosome patterns. During his career, Turner encountered multiple patients with a specific set of symptoms, including stunted sexual development, webbed neck, and elbow deformities, and he was unable to place those symptoms under one existing diagnosis. So, he categorized those symptoms as a new syndrome, which researchers later named Turner syndrome. By identifying Turner syndrome as a developmental condition, Turner helped future physicians develop treatments and diagnostic tools that can improve the lives of individuals with various developmental disorders.
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.