Fighter Imane Khelif is facing a genetic condition known as “differences in sex development” (DSD), which means she has a biological sex of female but carries male chromosomes.
On August 1, fighter Imane Khelif sparked controversy regarding her gender after winning against Italian opponent Angela Carini in just 48 seconds in the women’s -66 kg category at the Paris 2024 Olympic Games.
Khelif’s presence in this season has become a divisive issue. She was previously disqualified from the 2023 Women’s World Championships. Just hours before the finals, she was informed of elevated testosterone levels, exceeding the standard. The International Boxing Association (IBA) intervened, conducting a DNA test on Khelif and discovered she carries XY chromosomes. Another athlete, Lin Yu-Ting from Taiwan, competing in the women’s -57 kg category, was also disqualified from the tournament for the same reason.
According to AP, the condition of both athletes is classified as “differences in sex development” (DSD). This encompasses a group of rare genetic issues related to genes, hormones, and reproductive organs, including genitalia. Experts sometimes refer to these conditions as “disorders of sex development” or intersex.
Scientists have yet to determine a common cause for DSD, even with the most modern diagnostic techniques. Individuals with DSD often have mismatched chromosomes and genitalia, such as possessing XX chromosomes (typically found in females) and ovaries, but having male external genitalia, or vice versa. This occurs when a female fetus is exposed to excessive male or female hormones before birth.
Common conditions associated with DSD include congenital adrenal hyperplasia, maternal tumors producing male hormones affecting the fetus, aromatase deficiency (an enzyme that typically converts male hormones to female hormones), and issues with the testes.
Fighter Imane Khelif (right) and fighter Angela Carini during the women’s -66 kg boxing match at the Paris 2024 Olympics on August 1. (Photo: AP).
There are various forms of DSD.
Some individuals have XX chromosomes (typical females) with ovaries and a uterus, but their genitalia show abnormalities, such as an enlarged clitoris and a closed vagina. Doctors refer to this condition as 46,XX DSD. The most common cause is congenital adrenal hyperplasia.
In some individuals, the adrenal glands lack an enzyme needed to produce cortisol and aldosterone hormones. Without these hormones, the body produces higher levels of male sex hormones (androgens). Congenital adrenal hyperplasia can also lead to serious health issues, such as life-threatening kidney damage, requiring prompt treatment.
Some individuals have XY chromosomes (typical males), but their external genitalia develop similar to females. Many may have a uterus and undescended testes inside their bodies. Sometimes, the testes are nonfunctional. Doctors refer to this condition as 46,XY DSD.
Some boys are born with a natural opening beneath the penis and can urinate through this opening. This condition is caused by androgen insensitivity syndrome (AIS), where the body “ignores” male androgens or is insensitive to them.
In other forms of DSD, the genitalia of intersex individuals appear normal, but they carry a completely different type of chromosome than XX and XY, such as XO or XXY. They possess normal male or female genitalia but do not undergo full physical development during puberty, such as not experiencing menstruation. Doctors call this sex chromosome DSD.
A typical form of this condition is Klinefelter syndrome, where boys are born with an extra X chromosome, meaning they are XXY. Their bodies do not produce enough testosterone as they should. This hormone is responsible for the development of male characteristics, such as testes and body hair. Testosterone is crucial for bone strength and reproductive capability.
The final form of DSD is women born with underdeveloped or absent uterus, cervix, and upper vagina. Their breasts develop, and their external genitalia appear similar to most other girls. This condition is also known as Rokitansky syndrome.
The cause is unclear, but all affected girls have XX chromosomes. The first sign of this syndrome is the absence of menstruation, and sexual intercourse may be difficult due to a shorter vagina than most women. Individuals with this syndrome cannot become pregnant but still have ovaries. They can retrieve eggs, undergo artificial fertilization, and implant them into the uterus of another person (surrogacy).
