What Is DSD? Rare Biological Condition Behind Imane Khelif’s Olympic Boxing Controversy Explained

Algerian Olympic boxer Imane Khelif, who won the gold medal in the women's 66kg boxing category at the 2024 Paris Olympics, has found herself in the middle of a gender-related debate. Reports accessed by French journalist Djaffar Ait Aoudia, as published in Reduxx, brought to light medical findings about Khelif's biological status, revealing that Khelif has "testicles" and an XY chromosome arrangement, thus confirming as 'biologically male'.

According to this report, Khelif has a medical condition known as 5-alpha reductase deficiency (5-ARD), a rare difference in sex development (DSD). Medical documents, allegedly from collaborations between France’s Kremlin-Bicêtre Hospital and Algeria’s Mohamed Lamine Debaghine Hospital, were reportedly compiled in June 2023. These reports outline that Khelif has internal testes and other characteristics atypical for female development.

An MRI and chromosomal tests confirmed the absence of a uterus and the presence of internal male reproductive organs. Furthermore, her testosterone levels were consistent with typical male ranges.

DSD comprise the group of congenital conditions characterized by lack of typical sex development. In most cases, DSD can be identified in prenatal development due to interactions between complex genetic factors and hormone signals. Sometimes, people use the older term and refer to DSD as "intersex," while at other times they use some precise vocabulary to describe a given condition.

The terms "sex" and "gender" tend to be used almost interchangeably; however, they refer to two different things. "Sex" generally relates to the physical qualities determined by genetics and hormone influence, whereas "gender" refers to a human being's identity and social construction. DSD conditions can usually obscure the distinctions that are typical for sex, making talk around these terms particularly tricky.

The genetic factors form the core of DSD conditions. Normally, a human being has 46 chromosomes, two of which decide the sex of the individual-the X and Y chromosomes. In most females, two X chromosomes are found, but in most males, an X and a Y chromosome are found. DSD can cause variations in such chromosomal patterns and hence sometimes lead to incongruity between chromosomal sex and physical attributes.

Sex hormones, including androgens in males and estrogens in females, determine body development both in fetal life and at puberty. Such hormones are produced in gonads, which could be either testes in a male or ovaries in a female, as prescribed by the genetic pattern. Hormonal pathways may therefore get affected in DSD such that sexual characteristics might appear in an atypical fashion.

DSD may result in the combination of male and female reproductive structures or in reproductive parts not typical male or female. A few have mixed genitals, but others may have typical genitals yet possess an unusual chromosomal setup that reveals itself at puberty or even later.

DSDs are as diverse as are the individuals affected by them. For example, some can be mentioned to be the following:

- In this case, one finds an individual with an XY chromosome yet having female-like external genitals.

- In other words, one has XX chromosomes but with male-like genitals.

- One can still have both ovarian and testicular tissues, meaning in such a case, you are likely to have genitals which might be a mix of a male and female.

- Some individuals have normal sex organs but an atypical arrangement of chromosomes, meaning changes in physical development over time.

The Cleveland Clinic notes that "intersex" has been the term used for decades in describing DSDs; however, terminology may vary among individuals and cultures. Some people with DSD prefer terms like 'differences' instead of 'disorders', arguing that DSD is just a variation in biological development.

According to a report in The Independent, "If I showed you pictures of my patients without any clothes on, you would say, well, these are females that I'm looking at," said Prof Højbjerg Gravholt, professor of genetic endocrinology in Denmark and works with patients who have differences in sex development.

He mentions that physical characteristics, hormonal profiles, or chromosomes cannot determine a person's sex uniquely. DSD in the lives of many presents the message that sex is not a biological category but rather a spectrum molded by genetic and hormonal diversity.

DSDs are caused by variations in genes that control sexual development or altered response to hormones such as those found in CAH. CAH presents as a result of excess androgen production with the development of male characteristics. Another type of DSD is the AIS where the body system is unable to respond to the presence of androgens thereby modifying physical development.

According to Cleveland Clinic, treatment of DSD is given based on the severity of the symptoms. These can vary from:

-Hormonal therapy for puberty and other conditions that may arise in connection with DSD, including osteoporosis.

-Genital reconstruction or modification surgery. Most of the surgeries are irreversible and thus left until the patient is capable of giving consent. For the very mild cases of DSD, no treatment is necessary and the individual may lead an untreated life.

Currently, DSDs can't be prevented. What is not well understood at present is the complex gene interactions that drive the development of human sex. No method has been developed that can predict or avoid DSDs in future offspring. That unpredictability reflects the normal variation in human biology.