Man visits doctor for abdominal pain, discovers he is genetically a woman

The patient, who will continue to live as a male, has an extremely rare combination of two genetic abnormalities, Turner syndrome and congenital adrenal hyperplasia, doctors discovered.

A 66-year-old man found out he is genetically a woman after doctors examined him for an abdominal pain complaint at Kwong Wah Hospital in Hong Kong

A 66-year-old man visited the doctor for abdominal pain and received a stunning diagnosis: He is genetically a woman.

The Chinese patient, raised as male, is short in stature at just 4 feet, 5 inches, is able to grow a beard, and has sexually ambiguous genitals, with a micropenis and no detectable testicles, doctors at Hong Kong's Kwong Wah Hospital noted.

When doctors examined him further, they found he has the internal organs of a female, and that his stomach pain was caused by a large, benign ovarian cyst.

The patient has a rare combination of Turner syndrome and congenital adrenal hyperplasia (CAH), doctors determined. Turner syndrome occurs when a female lacks two X chromosomes, while CAH affects the production of cortisol by the adrenal glands. Both can interfere with the development of reproductive organs and the appearance of secondary sex characteristics.

"The patient, by definition, is a woman who cannot get pregnant. But she also has CAH, which gave her the appearance of a man," Chinese University pediatrics professor Ellis Hon Kam-lun told the South China Morning Post. "It's an interesting and very rare case of having the two combinations. It probably won't be seen again in the near future."

Only six cases of a patient with both Turner syndrome and CAH have been reported in medical literature, doctors wrote in a report published in Hong Kong Medical Journal on Monday.

The patient intends to keep living as a man and may undergo hormone replacement therapy, doctors said.