Representatives from the First Affiliated Hospital of the University of Science and Technology of China in Hefei, Anhui province, announced on 6/3 a rare medical case. For the past four years, Hanh Hanh had been raised as a girl but was discovered to have male chromosomes, according to Sing Tao Headline on 7/3. Her family discovered this truth after bringing her to the hospital for severe snoring and high blood pressure, reaching 147/93 mmHg, which far exceeded the normal range for children her age.
After further testing, doctors recorded the patient's chromosome set as 46,XY, meaning the child is genetically male. Medical experts confirmed Hanh Hanh suffers from a rare genetic disease called 17α-hydroxylase deficiency.
The child exhibited typical female characteristics, from personality and appearance to external genitalia. Consequently, the family found it difficult to accept this reality.
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Illustrative photo: ST Headline |
Doctor Hung Mai, Deputy Head of Pediatrics and the physician who diagnosed the case, explained that 17α-hydroxylase deficiency, which Hanh Hanh suffers from, is a rare congenital disorder causing sex development disorders. It prevents the body from normally synthesizing sex hormones and cortisol, leading to symptoms such as high blood pressure and altered sexual characteristics. Doctors typically discovered most previous cases in adulthood when patients sought treatment for infertility or primary amenorrhea. "A diagnosis at the pediatric stage, like Hanh Hanh's, is uncommon," said Doctor Mai.
According to Doctor Hung, this is a lifelong condition, but with proper medical intervention, patients can still maintain a normal life. Current treatment options primarily include hormone replacement therapy and gender-affirming surgery, based on the family's future choice.
The child is currently receiving hormone therapy to control disease-induced high blood pressure. Once her indicators stabilize, she will need to undergo a gender determination process and receive appropriate surgical intervention.
Medical experts advise the community not to be complacent about rare diseases. Early diagnosis and timely treatment play a decisive role in improving patients' long-term health and quality of life.
Binh Minh (According to Sing Tao Headline, Sohu)
