KEY POINTS

  • A 30-year-old woman was diagnosed with testicular cancer
  • She was apparently a “man” with “androgen insensitivity syndrome”
  • Her 28-year-old sister was diagnosed with the same condition

She went to the hospital to get treated for what should have been a relatively routine case of abdominal pain. She went home with an astonishing discovery: she was a “man.”

A 30-year-old woman from Bengal, India has been married for nine years when she visited a local hospital for severe pain in her lower abdomen a few months ago. After diagnosing her with testicular cancer, two oncologists who took her case later spent time to find out “her true identity.”

She was reportedly diagnosed with a rare condition called “androgen insensitivity syndrome” – which causes people who are genetically male to have all the physical traits of a woman.

According to the United Kingdom National Health Service, androgen insensitivity syndrome or AIS is a genetic disorder that’s usually passed on from mother to child. The child, who should be male from the genes, doesn’t properly respond to the male sex hormone testosterone and so does not develop male sexual characteristics.

Depending on the type of AIS, the child won’t have a penis but will also not have a uterus or ovaries. The testicles also don’t descend.

It’s a very rare condition found only in one out of every 22,000 people. The patient’s sister, 28, was also diagnosed with the same condition. Two of her aunts were diagnosed with AIS in the past.

One of her doctors, Dr. Anupam Dutta, said that they decided to conduct clinical examinations after they found testicles inside her body, which developed tumors. Tests result first suggested that she had a “blind vagina” and further testing revealed that she had “XY” chromosomes like men, instead of “XX” found in women.

“A biopsy was conducted, following which she was diagnosed with testicular cancer, also called seminoma,” Dr. Dutta explained.

“As her testicles remained undeveloped inside the body, there was no secretion of testosterone,” he added. “Her female hormones, on the other hand, gave her the appearance of a woman.”

The patient’s health is currently stable and she is undergoing chemotherapy. She and her husband are also undergoing counseling.