Sex chromosomes, sex chromosome disorders, and disorders of sex development

Abstract

It can be argued that the sex chromosomes are the most important pair of chromosomes given their role in determining gender and, therefore, allowing for reproduction and procreation. Considered together, sex chromosome aneuploidies are the most common chromosome abnormalities seen in live-born infants, children, and adults. Physicians in many specialties including pediatrics, obstetrics and gynecology, endocrinology, internal medicine, and surgery commonly encounter individuals with sex chromosome disorders. There has been a great deal of misinformation in the past regarding outcomes and developmental pro fi les of these patients, leading to bias and discrimination. This chapter attempts to provide a summary of information regarding the sex chromosomes, sex chromosome disorders, and disorders of sex development.