A 66-year-old apparently male patient made a stunning discovery when he sought treatment for swelling in his abdomen. The swelling was a cyst on his ovary and he was in fact a woman.
The condition was caused by a very rare combination of two genetic disorders. One, Turner syndrome, causes women to lack some female features, including the ability to get pregnant.
Sufferers usually look like women, but in this case the patient also had congenital adrenal hyperplasia (CAH), which boosted the male hormones and made the patient look like a man.
The case was reported by doctors from Kwong Wah Hospital and Queen Elizabeth Hospital, who treated the patient. It was published in the Hong Kong Medical Journal yesterday.
"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 paediatrics professor Ellis Hon Kam-lun said. "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 Vietnam-born Chinese man is an orphan. He has a beard, small penis and no testes. Just 1.37 metres tall, he has decided to continue perceiving himself as a male and may receive male hormone treatment, the report said.
When pressed, he disclosed a long history of urinary leakage and arrest of growth after puberty at the age of 10.
Only six cases of a patient with both conditions have been reported in medical literature. This patient was diagnosed later in life than any of the others.
Turner's syndrome has an estimated prevalence of one in 2,500 to 3,000 females.
Normal females have a pair of X chromosomes, while males have one X and one Y.
Turner syndrome patients have only one X. They usually had the appearance of girls and the condition was identified when they reached puberty and did not menstruate, Hon said.
Private gynaecologist Dr Kun Ka-yan said Turner syndrome was rarer now as most sufferers were identified in prenatal tests. Women would usually choose an abortion as the disease can bring other health problems, including mental disability.