A 66-year-old Hong Kong man hospitalised with a pain in his abdomen received a diagnosis he never could have predicted – he was in fact a woman.
The apparent swelling in his abdomen turned out to be a cyst on his ovary.
According to doctors at Kwong Wah Hospital and Queen Elizabeth Hospital, the patient had an extremely rare combination of genetic conditions – Turner syndrome, which hid his ovaries and prevented pregnancy, and another called congenital adrenal hyperplasia, which boosts male hormones and made him look like a man.
“The patient, by definition, is a woman who cannot get pregnant,” Chinese University paediatrics professor Ellis Hon Kam-lun told the South China Morning Post, “but she also has CAH, which gave her the appearance of a man.
“It’s an interesting and very rare case of having the two combinations. It probably won’t be seen again in the near future.”
The 66-year-old had a beard, a small penis and no testes, according to the Hong Kong Medical Journal report. He was only 1.37m tall, having stopped growing at age 10.
Turner syndrome is increasingly rare as it is now often picked up in prenatal testing, leading to abortions.
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