A Unique Case of a Woman With Male Chromosomes in Her Blood

upstart writes:

A unique case of a woman with male chromosomes in her blood:

This is believed to be the first recorded case of its kind, and doctors believe her blood came from her twin brother while they were in the womb.

In every other cell in her body, Ana Paula Martins has XX chromosomes associated with female sex characteristics.

But in her blood cells she carries XY chromosomes that typically determine biological male sex.

This is believed to be the first recorded case of its kind, and doctors believe her blood came from her twin brother while they were in the womb.

This phenomenon was discovered in 2022, after a miscarriage experienced by Ana Paula.

During a medical examination, the gynecologist ordered a karyotype analysis, which allows for a detailed examination of an individual's chromosomes, usually from a blood sample.

"They called me from the lab and said the analysis needed to be repeated," Ana Paula recalls.

The results showed the presence of XY chromosomes in her blood, which confused both Ana and the doctors.

"I went to examine the patient and she had, so to speak, absolutely all the normal female characteristics," explains Gustavo Maciel, a gynecologist at a Brazilian health organization. Fleury Medicine and Health.

"She had a uterus, ovaries... the ovaries were functioning normally," adds this professor at the School of Medicine of the University of Sao Paulo.

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