Defining Intersex and Differences of Sex Development

The term intersex refers to more than 30 diagnoses of differences in sex development. Together these intersex conditions affect approximately 1.7% of the population. Although the intersex population is comparable to those with red hair, they are often hidden from society. For Intersex Awareness Day, we want to recognize the intersex community and provide definitions of some of the common diagnoses that fall under the term.

A variation in X chromosomes is the root cause of both Turner Syndrome and Klinefelter Syndrome. Although individuals with Turner Syndrome may have all of the typical female sex characteristics, these characteristics are typically underdeveloped compared to how they would be represented in an anatomically “typical” female. This underdevelopment is caused by a variation in one of the two X chromosomes, causing it to not be fully functional. Individuals with Klinefelter Syndrome have both an X and a Y chromosome, as is typical for biological men, but they also have a second X chromosome. Though the male genitalia often appears normal at birth, the child may develop differently during puberty and may even develop breasts.

Sometimes genitals are not clearly defined. In the case of Mixed Gonadal Dysgenesis, a chromosomal pattern variation causes the formation of two different gonads, which leads to a visually ambiguous biological gender in the individual. The chromosomal pattern variation most often found in individuals with Mixed Gonadal Dysgenesis is a mosaic pattern; a combination of 46XY and 45XO chromosomes.

For individuals with Androgen Insensitivity Syndrome (AIS), variations are caused by the inability of the cells to respond to the hormone androgen, which is typically seen as a “male” hormone. A biologically male fetus with AIS will develop female genitalia in addition to typical male testes, though usually neither is fully formed. The cells are largely unable to respond to testosterone and converts most of it to estrogen. As the child matures into puberty, their body reacts in a traditionally female pattern, even though it is biologically male.

Congenital Adrenal Hyperplasia (CAH) refers to several bodily variations affecting the adrenal glands. Instead of producing the typical cortisol, the adrenal gland of CAH individuals will overproduce other hormones, causing enlarged genitalia to grow during gestation. The hormonal imbalance can continue past birth, having a masculinizing effect. CAH is the most likely intersex condition to require immediate medical attention after birth.

Simply put, intersex individuals don’t all look the same or experience the same symptoms. Sometimes, the genitals or endocrine systems of intersex people have elements of both biological genders. In other circumstances, an intersex person could be assigned a gender at birth based on their biological genitals, only to find that the hormones produced by their bodies as they grow up do not reflect the gender assumed at birth by the medical community.

Intersex babies and infants are often put through surgeries in order to match the gender they have been assigned or to make their reproductive organs appear more anatomically typical, long before they can make decisions about their own gender identity and bodies. Child intersex surgeries are rarely medically necessary or urgent and are largely being recognized as a negative practice because they frequently result in damage to otherwise healthy organs and deny the patients bodily autonomy. Even though the United Nations has recognized these harmful effects by calling these surgeries a human rights violation and torture, many doctors and parents still perceive surgery as a medical “fix” to a non-medical problem. The long-term issues faced by intersex individuals can include loss of fertility, irreversible scarring and tissue damage, decreased sexual function, infection, chronic pain, misgendering, and intense emotional distress.

Intersex and Faith is an organization lifting the voices of intersex individuals and organizations through the lens of religion. CMAC Research Associate Megan DeFranza worked with collaborators Lianne Simon and Paul van Ness to produce the documentary Stories of Intersex and Faith, which tells the story of five intersex people in order to draw attention to issues such as sex, gender, and their religious faith.

Watch the trailer for the film below and visit the Stories of Intersex and Faith website for more information on upcoming screenings, curriculum, and how to get involved. To donate to Intersex and Faith, click here.

Written by Sara Mack, Communications Assistant. October 26, 2019.