A recent report has brought Algerian boxer Imane Khelif into the spotlight, not for her achievements in the ring, but for a complex and rare biological condition known as 5-alpha reductase deficiency (5-ARD). This genetic disorder, which affects sexual development, reportedly complicates her eligibility for women’s sports, leading to intense debates and scrutiny over her participation in the Olympics.
What is 5-Alpha Reductase Deficiency (5-ARD)?
5-alpha reductase deficiency (5-ARD) is a rare condition affecting individuals who are genetically male, meaning they have one X and one Y chromosome in each cell. People with 5-ARD have a mutation in a specific gene (SRD5A2) that reduces or completely blocks the production of an enzyme called 5-alpha reductase. This enzyme is responsible for converting testosterone, a male hormone, into a more potent form known as dihydrotestosterone (DHT).
DHT is crucial for developing male external genitalia in a fetus. Without it, the body cannot form male genitalia typically, leading to what doctors call “ambiguous genitalia,” which doesn’t look fully male or female. Often, this results in the baby being mistakenly assigned as female at birth. This is likely what happened in Imane Khelif’s case, who was raised as a girl but may now be dealing with a complex mix of both male and female physical traits.
How Does 5-ARD Affect Development?
In the earliest stages of fetal development, both male and female genitalia look the same. However, during pregnancy, male fetuses start producing testosterone. Around 10% of this testosterone should convert into DHT, which initiates the physical changes that define male genitalia.
In Males with Normal 5-Alpha Reductase Activity: When DHT reaches the developing genital area, it causes the genital tubercle (a small projection) to grow into a penis. The labioscrotal swellings—fleshy folds on each side of the genital area—also fuse to form the scrotum, which will later house the testicles.
In Males with 5-ARD: Because the enzyme 5-alpha reductase is missing, testosterone isn’t converted into DHT. This causes the male genital area to develop along a more female-like path. Instead of forming a fully elongated penis, the genital tubercle may form a small structure that can resemble a clitoris. The labioscrotal folds remain separate, looking more like female labia, and the urethral opening may be in an unusual position. These characteristics result in what doctors call “ambiguous genitalia.”
In these cases, the child is usually assigned female at birth, often due to a lack of clear male genital structures, as appears to have happened with Khelif.
Changes at Puberty
The impact of 5-ARD doesn’t stop at birth. During puberty, a significant rise in testosterone levels leads to further physical changes, even without the usual conversion to DHT. This surge in testosterone can cause the genitalia to grow and take on more masculine features, such as an enlarged phallus that might resemble a penis. Other male puberty traits, like a deeper voice, increased muscle mass, and facial hair, also start to develop.
For many people with 5-ARD, puberty brings a sudden and noticeable shift in appearance, making them look more typically male despite being raised female. This development often brings questions about identity and can lead to complex social, emotional, and medical challenges.
Imane Khelif’s Situation
According to reports, a medical examination allegedly revealed that Khelif has characteristics consistent with 5-ARD. The report, leaked by a French journalist, detailed findings such as the absence of a uterus, the presence of testicular tissue in her abdomen, and genital structures that were neither entirely male nor female. These findings are medically consistent with 5-ARD, indicating she may have been incorrectly assigned female at birth due to the appearance of her genitalia as a newborn.
An MRI scan reportedly revealed a “blind vaginal pouch,” a characteristic seen in some people with 5-ARD, where an external vaginal structure exists but does not connect to a uterus. This kind of anatomy further supports the possibility of Khelif’s condition and her biological classification as male in medical terms, despite her upbringing as female.
Why Is This Causing Controversy?
The core of the controversy lies in how Khelif’s biological traits align with sports categories, specifically in a context where athletes are divided into men’s and women’s divisions. Athletes with differences in sex development (DSDs), like 5-ARD, often don’t fit neatly into either category, leading to debates about fairness, inclusion, and eligibility.
The International Olympic Committee (IOC) received Khelif’s medical information, yet they maintain that medical analysis is not the primary factor in selecting athletes. However, others suggest that certain individuals within the Olympic committee may have pushed for Khelif’s inclusion despite her biological characteristics, sparking criticism from those who believe this could compromise fairness in women’s sports. For some, Khelif’s inclusion is seen as potentially offering an athletic advantage due to her high testosterone levels, even if she identifies and was raised as a woman.
How Is 5-ARD Diagnosed and Treated?
Diagnosing 5-ARD often requires both genetic and physical examinations. Doctors look at hormone levels, and in individuals with 5-ARD, the testosterone to DHT ratio is usually high. Genetic testing can confirm the SRD5A2 gene mutation, and a karyotype test (an examination of chromosomes) can show the presence of one X and one Y chromosome, identifying the individual as genetically male.
Treatment is highly individualized and depends on the person’s preferred gender identity and physical needs. Hormone replacement therapy can help align physical characteristics with gender identity, and surgeries can help modify genital appearance and function. Psychological support is also critical, as people with 5-ARD often face unique mental health challenges due to the social stigma and personal complexities surrounding their condition.
In Khelif’s case, reports suggest that medical professionals have recommended surgical correction, hormone therapy, and long-term psychological support due to the psychological impact of her situation.
The Broader Debate on DSD in Sports
The issue of DSDs like 5-ARD in sports isn’t new. High-profile athletes such as Caster Semenya, who also has a DSD, have faced similar challenges and scrutiny over their eligibility to compete in women’s events. With limited guidelines and varying rules across sports organizations, each case adds fuel to the broader debate: how can sports divisions remain fair while respecting the identities of athletes with DSDs?
Many argue that DSD athletes should be allowed to compete in line with their gender identity, while others believe that physical advantages, like naturally higher testosterone levels, create an uneven playing field in women’s sports. This tension between inclusivity and fairness continues to shape policy changes and discussions across the sporting world.
