Leaked Medical Report Claims Imane Khelif Is 'Biologically Male' Due To 5-Alpha Reductase Deficiency , We Broke What It Means

A medical report allegedly leaked by French journalist Dfaffar At Aoudia revealed Algerian boxer Imane Khelif's gender. The screenshot of the report posted by the French journalist on LeCorrespondant revealed that "Khelif is impacted by 5-alpha reductase deficiency, a disorder of sex development that is only found in biological males." The report further goes on and reads that "male babies impacted by 5-alpha reductase deficiency are often incorrectly assigned female due to the presence of deformed genitalia that sometimes takes on the appearance of 'blind vaginal pouch'."

5-alpha reductase deficiency (5-ARD disorder of sex development (DSD)) is a genetic disorder of an enzyme (a protein) called 5-alpha reductase that is absent or defective in males. This enzyme converts the male hormone testosterone to its more potent form called dihydrotestosterone. It plays an important role in helping with the development of male external genitalia in the fetus.

At a very early stage in fetal life, in males and females, sex organs and external genitalia are undifferentiated and they also look identical. However, in the first few months, the testicles in the male fetus start producing testosterone and 10% of it is converted into dihydrotestosterone. This is used in the making of genital skin.

Over time the levels of dihydrotestosterone rise and the genitalia starts to differentiate between male and female.

When the baby is in the fetus, the genital areas of both males and females remain the same (see the diagram). There is a genital tubercle, which is a projection; below that is a urethral groove. Then comes the external opening of the urogenital or the future urethra and bladder and it is surrounded by urethral folds and labioscrotal swellings.

In males, when dihydrotestosterone reaches this structure it makes the genital tubercle elongate into the phallus which eventually becomes the penis. The elongated genital tubercle pulls up the urethral folds which fuses in the midline and forms the penile urethra. The tips remain unfused forming the external urethra opening. The labioscrotal swellings fuse proximally to form the scrotum, which houses the testicles.

In females, the gonads (a gland that produces hormones in both males and females) turn into ovaries which produce a very small amount of androgen (the family that testosterone). The labioscrotal and the urethra opening remain separated, and it surrounds the opening of the vagina. These developments happen in the first four month of the baby while it is still in the fetus.

5-ARD DSD is a mutation in gene SRD5A2 that reduces the amount of 5 alpha-reductase enzyme. In this case, both copies of the gene have to be mutated and the individual has to be genetically male with one X and Y chromosome in each cell.

Since dihydrotestosterone has no role to play in female genitalia with two x chromosomes in each cell, the problem only arises in male fetuses where testicles produce testosterone. In this case, the testosterones are not converted to dihydrotestosterone because the 5 alpha reductase enzyme is missing.

In such cases, while there are male internal sex organs, the external genitalia follow a female path of development. The phallus does not fully elongate and resembles something in between a clitoris and a penis head. The scrotum remains split in two, known as the bifid scrotum. The urethral opening remains on the underside of the penis, called hypospadias.

The genitalia does not look clearly male or female and is thus called "ambiguous genitalia". However, due to the non-fusion of the scrotum and urethral opening, the child is assigned female at birth.

During puberty, there is a huge increase in the levels of testosterone. Even though it cannot be converted to dihydrotestosterone, there is so much testosterone around that the phallus and scrotum grow larger and start to look like male genitalia. The person also grows muscle, experiences a deepening of voice and has facial hair.

While it cannot be diagnosed in babies, lab studies can indicate a high testosterone ratio to dihydrotestosterone. A karyotype showing the presence of X and Y chromosomes in a baby not matching with the genitalia may indicate 5-ARD DSD.

Treatments involve hormone replacement therapy according to the gender role preferred by the person and surgical procedures.

The allegedly leaked report was submitted in June 2023 by endocrinologists Soumaya Fedala and Jacques Young. It mentions that such cases are diagnosed late and that Imane will undergo "surgical correction and hormonal therapy as well as sustained psychological support because a very significant neuropsychiatric impact has been noted in her."

The French journalist in LeCorrespondent writes that she was born to parents who were "perhaps co-blood relatives" and was raised as a girl. The pelvic MRI shows an absence of the uterus, and the presence of gonads, testicles (as added by the editor's note of the portal) in her abdomen, a blind vagina and a micro-penis in the form of clitoral hypertrophy.

LeCorrespondent also speculates that Mustapha Berraf, a member of the International Olympic Committee "pushed the file" of Imane Khelif. While the report was submitted to the IOC, it responded that "the selection committee does not base itself on medical analyses and makes sovereign decisions," as reported in LeCorrespondent.

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