In Vietnam, patient raised as girl found to have male chromosomes

The patient, from Hung Yen Province, was assigned female at birth and developed normal female characteristics during puberty but never had a menstrual cycle. 

Tests showed XY chromosomes, a testosterone level in the male range, and no uterus or ovaries.

Magnetic resonance imaging revealed two undescended testes in the groin area. 

Doctors diagnosed a rare 46,XY disorder of sex development (DSD), which affects an estimated 0.01 percent to 0.02 percent of the population.

Surgeons moved both testes into the scrotum and performed a biopsy that showed fibrotic tissue and no sperm-producing cells, confirming infertility.

Although fertility could not be restored, the surgery reduced cancer risk and clarified the patient's male characteristics, said Dr. Nguyen Van Phuc of the hospital's andrology department.

The patient has since received counseling to confirm male gender identity and psychological support to adapt, Phuc said.

He added that early diagnosis of DSD can prevent cancer and mental health issues in children with ambiguous genitalia or absent menstruation in adolescence.