The unnamed patient arrived at Kwong Wah Hospital in Hong Kong complaining of a swelling in his abdomen.
In a paper published this week in the Hong Kong Medical Journal, doctors from Kwong Wah and Queen Elizabeth Hospitals explained that the patient suffered from both the chromosomal abnormality known as Turner Syndrome and the genetic disorder congenital adrenal hyperplasia (CAH), giving him the internal organs of a woman along with the physical appearance of a man.
"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."
In fact, there have been only six instances of both disorders occurring simultaneously in recorded medical history.
According to his doctors, the patient, who is 4'5" tall, bearded, has a micropenis and no testicles, plans to continue identifying as male, and may undergo male hormone replacement therapy.