A 66-year old Vietnamese born man was in for a surprise when sought treatment for an abnormal swelling in his abdomen - apparently, he was not a man, but a woman, and was suffering from a cyst in his ovary. This condition is actually a combination of two different genetic disorders - Turner's syndrome and congenital adrenal hyperplasia (CAH) - and is very rare.
While Turner's syndrome is a major genetic malformation, which affects fertility and some female features in women, congenital adrenal hyperplasia causes an extra boost in the production of male hormones, which makes the individual look more 'manly.'
Usually, such patients look like women; but since 'he' also suffered from congenital adrenal hyperplasia, his physical characteristics resembled that of a man, throughout his life. This 66 year old man, who is an orphan, is 1.37 meters tall, has a beard, a small penis, and no testes.
"The patient, by definition, is a woman who cannot get pregnant. But she also has CAH, which gave her the appearance of a man," pediatrics professor from Chinese University, Ellis Hon Kam-lun, explained.
Kwong Wah Hospital and Queen Elizabeth Hospital, where the patient received treatment, reported this case, and is now published in . "It's an interesting and very rare case of having the two combinations. It probably won't be seen again in the near future," Kam-lun added.
Medical literature reports a total of just six such cases, and of the six, this patient seems to have discovered this at a very later stage of 'his' life.
The patient also revealed a long history of urinary incontinence and growth arrest after the age of 10.
With an estimated prevalence of 1 in every 2,500 to 3,000 females, Turner's syndrome is usually identified when the patient reaches puberty, and doesn't start the menstrual cycle.
This syndrome, which is characterized by a lack of one X chromosome, is now a rare condition, mostly because it can be easily identified now in prenatal tests and diagnostics, and most women choose to undergo an abortion in such a situation, as it may pose health risks and mental problems in the future, gynecologist Dr Kun Ka-yan explained.