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 1959, Charles Edmund Ford and colleagues published “A Sex Chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner’s Syndrome),” hereafter “A Sex Chromosome Anomaly,” in The Lancet. Turner syndrome is a chromosomal disorder that affects one in 2,000 female births and results in developmental issues such as short stature, infertility, and congenital heart disease. Prior to “A Sex Chromosome Anomaly,” researchers did not know the cause of Turner syndrome, but Ford and colleagues found that the cause is a sex chromosome irregularity. In the article, the team explains that they examined the cells of a person with Turner syndrome and determined that she had just one X chromosome instead of the typical two. Thus, they concluded that the cause of Turner syndrome is a missing X chromosome and called for a new classification of the condition. “A Sex Chromosome Anomaly” was one of the first papers to identify the cause of Turner syndrome, and it provided scientists with a better understanding of individuals with a nontypical sex chromosome pattern.