In humans, sex determination is the process that determines the biological sex of an offspring and, as a result, the sexual characteristics that they will develop. Humans typically develop as either male or female, primarily depending on the combination of sex chromosomes that they inherit from their parents. The human sex chromosomes, called X and Y, are structures in human cells made up of tightly bound deoxyribonucleic acid, or DNA, and proteins. Those are molecules that contain the instructions for the development and functioning of all life forms, including the development of physical traits and body parts that correspond with each biological sex. Humans who inherit two X chromosomes typically develop as females, while humans with one X and one Y chromosome typically develop as males. Sex determination is the beginning of the development of many characteristics that influence how a human looks and functions as well as the societal expectations that other humans have for each other.

In the United States, most people are assigned both a biological sex and gender at birth based on their chromosomes and reproductive organs. However, there is an important distinction between biological sex and gender. Biological sex, such as male or female, commonly refers to physical characteristics. Gender refers to the socially constructed roles, behaviors, and actions people take on, usually in relation to expectations of masculinity or femininity. As of 2022, there is disagreement over the relation between sex and gender. People’s biological sex and gender greatly influence the way they understand themselves, as well as how others treat them and how they interact with society. Moreover, some people’s gender differs from what they were assigned at birth, and they face discrimination, harassment, and violence. Evolving understandings of gender and sex in the US have created more ways for people to live and express their gender identities.

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.