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A leaked medical report of controversial Olympic gold medalist Imane Khelif has brought an old issue to the forefront again. The 25-year-old Algerian boxer is now under heavy scrutiny after the leak of a medical report questioning her eligibility for female competition.

The report, accessed by a French journalist has indicated that Khelif has internal testicles and an XY chromosome makeup – which signals a genetic condition known as 5-alpha reductase deficiency. According to experts, this rare genetic disorder impacts sexual development, often resulting in ambiguous genitalia and limiting secondary male characteristics.

Studies say those who have the condition are born genetically male but have trouble producing a crucial hormone called dihydrotestosterone or DHT - which is essential for the development of male sex characteristics, especially those visible on the outside of the body.

Individuals with this condition are genetically male, having one X and one Y chromosome, as well as male reproductive organs called testes.

Khelif’s report, allegedly prepared collaboratively by medical professionals from Kremlin-Bicêtre Hospital in Paris and Mohamed Lamine Debaghine Hospital in Algiers in June 2023, has the boxer’s anatomy, including the absence of a uterus and the presence of what was described as a micropenis.

It also recommended surgical correction and hormone therapy, aimed at aligning Khelif’s physical traits with her self-perceived gender identity.

According to studies, many genetic mutations, especially in the SRD5A2 cause leads to the 5-alpha reductase deficiency - making an enzyme involved in processing androgens - hormones that direct male sexual development. Variants in the SRD5A2 gene prevent steroid 5-alpha reductase 2 from effectively converting testosterone to DHT in the developing reproductive tissues. These hormonal factors underlie the changes in sexual development seen in infants with 5-alpha reductase deficiency.

During puberty, the testes produce more testosterone. Experts say that those with 5-alpha reductase deficiency develop secondary male sex characteristics in response to higher levels of this hormone. Some affected people also retain a small amount of 5-alpha reductase 2 activity, which may produce DHT and contribute to the development of secondary sex characteristics during puberty.

Doctors say since 5-alpha reductase deficiency is a rare condition; the exact incidence is unknown. Large families with affected members have been found in several countries, including the Dominican Republic, Papua New Guinea, Turkey, and Egypt.

According to research, even though those who are genetically females – with two X chromosomes – may inherit variants in both copies of the SRD5A2 gene, their sexual development is not affected. The development of female sex characteristics does not require DHT, so a lack of steroid 5-alpha reductase 2 activity does not cause physical changes in these individuals.

Only those who have variants in both copies of the SRD5A2 gene and are genetically male will have the characteristic signs of 5-alpha reductase deficiency.

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