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.

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.