A 27-year-old woman in China was left stunned after she discovered that she is biologically a male, days ahead of her wedding. Li Yuan, whose name has been changed to protect her identity, went to a doctor for a thorough medical check-up after having concerns about not menstruating, South China Morning Post reported.
She was first diagnosed with abnormal hormone levels and potential ovarian failure at the age of 18. Though doctors recommended a follow-up chromosome test at the time, Li and her family ignored the advice. However, this time, her medical examination revealed a shocking truth.
Doctors found a testicle in her abdomen and diagnosed her with a rare disorder called Congenital Adrenal Hyperplasia (CAH). The rare disorder is found in only about 1 in 50,000 newborns.
“Socially, Li is female. But chromosomally, she is male,” said Duan Jie, a veteran gynaecologist, who confirmed that Li had male sex chromosomes but looked female.
Li, who lived 27 years as a woman, was devastated and had a hard time accepting the truth.
Notably, both of Li's parents carry recessive disorder-causing genes, so Li had up to a one-in-four chance of having the abnormal condition passed on to her. Test results also revealed that Li suffers from osteoporosis and vitamin D deficiency due to a lack of early treatment.
Doctors stressed the need for immediate removal of the testicle hidden in Li's abdomen as it posed a high risk of cancer. The surgery was performed in the first week of April, and testicles were removed from her abdomen.
She now requires regular follow-up tests and long-term hormone therapy. Li's story has now gone viral on social media in China and many sympathised with her and admired her bravery.
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect a person's adrenal glands. These glands produce hormones your body needs to function properly. An imbalance in these hormones can cause symptoms affecting sexual development.
