A 27-year-old woman in China is in complete shock after her medical examination revealed a testicle in her abdomen. Local doctors said that the woman has male sex chromosomes but female hormones.
Called congenital adrenal hyperplasia, the rare disorder is found in only about 1 in 50,000 newborns. Li Yuan, whose name has been changed, went for medical checkups days before her marriage.
Duan Jie, a veteran gynecologist, diagnosed the rare disorder after a month’s anxious wait for the results of tests. Duan confirmed that Li had male sex chromosomes but looked female.
“Socially, Li is female. But chromosomally, she is male,” said Duan.
Medical history
When Li was 18, she was concerned about not menstruating and delayed breast development.
At that time, her medical checkups revealed abnormal hormone levels and potential ovarian failure. Doctors had suggested her to go for chromosome test, but Li didn’t take their advice seriously.
According to SCMP, 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. Due to a lack of early treatment, Li also suffers from osteoporosis and vitamin D deficiency, the test results revealed.
High risk of cancer
Due to the high risk of cancer, doctors stressed the need for immediate removal of the testicle hidden in Li’s abdomen.
The dangerous surgery was performed in the first week of April, and testicles were removed from her abdomen. Li will now go under long-term hormone therapy.
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function.
According to NIH, affected people lack an enzyme, and the adrenal glands need to make one or more of these hormones, often overproducing androgens (male hormones such as testosterone).
For example, females with a severe form of the condition may have ambiguous genitalia at birth and, if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting, and other health problems soon after.
People with milder forms may not be diagnosed with the condition until adolescence or adulthood, when they experience early signs of puberty or fertility problems.
