In what may be one of the most surprising diagnoses in medical history, a 66-year-old Vietnam-born Chinese man was found to be a woman.
The shocking revelation would have remained undisclosed had it not been for the large ovarian cyst found in the patient’s swollen abdomen after a doctor’s visit in Hong Kong.
The patient’s condition, as reported by the Hong Kong Medical Journal, stems from two rare genetic disorders, one of which is Turner Syndrome, characterized by stunted growth and reproductive sterility. The other condition, Congenital Adrenal Hyperplasia, is attributed to abnormally higher levels of male hormones, and results in masculine features in women, such as the growth of a beard and the presence of a “micropenis.”
The patient, standing only 1.37 meters tall (4′ 6″), having no testes, and with a childhood history of urinary leakage, still sees himself as a man, and considers the need for a possible testosterone replacement therapy.
The combination of both syndromes in one person is so rare that only six cases have ever been documented.
Only one in about 2,500 to 3,000 females is diagnosed with Turner Syndrome, in which affected women have only one X chromosome instead of two, or have part of the other X chromosome missing. Men, on the other hand, have one X and one Y chromosome.