Algerian boxer Imane Khelif has been in the spotlight while participating in the 2024 Paris Olympics. Khelif is believed to have a condition that makes her body look like a man. Khelif’s disease is believed to be Swyer syndrome. Quoted from the site raredisease.org Swyer syndrome is a rare disorder characterized by the failure of the sex glands (i.e. testes or ovaries) to develop.
Swyer syndrome is classified as a disorder of sex development (DSD), which includes any disorder in which the development of the sex chromosomes, gonads, or anatomy is abnormal.
Girls with Swyer syndrome have an XY chromosome arrangement (like boys usually) instead of an XX chromosome arrangement (like girls usually). Despite having an XY chromosome arrangement, girls with Swyer syndrome look like girls and have functional female genitalia and structures including a vagina, uterus, and fallopian tubes.
Girls with Swyer syndrome do not have sex glands (ovaries). Instead of sex glands, women with Swyer syndrome have a “gonadal streak,” where the ovaries are underdeveloped (aplasia) and replaced by nonfunctional scar (fibrous) tissue.
It is also stated that because of the lack of ovaries, girls with Swyer syndrome do not produce sex hormones and will not go through puberty (unless treated with hormone replacement therapy). Mutations in several different genes are known to cause Swyer syndrome. The condition can occur as a result of a new gene mutation or can be inherited in an autosomal dominant, autosomal recessive, X-linked, or Y-linked manner. (H-3)
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