A 25-year-old Zhejiang woman accidentally twisted her foot some time ago and took an X-film at a local hospital. This X-film was like opening a Pandora’s box. She went to an endocrinology expert who requested her to check the chromosome. The result of the chromosome display was “46XY”, which means that she had a male chromosome karyotype after living as a female for 25 years. This result though heartbreaking , at there same time solved the mystery of why she has not been able to get pregnant.
The 25 year-old is slim and tall with a growth track no different from most girls of her age. After graduating from college, she found a job in her hometown. At the age of 24, she married her blind date and formed a small family. . Not long ago, she accidentally sprained her ankle when she climbed some stairs. Because the pain was unbearable, she went to a local hospital to take X-rays to see if there was any bone injury.
As soon as the X-ray came out, the local orthopedic doctor looked dumbfounded. Although the sprain was not a major problem, the examination result showed that the epiphysis was not closed. This means that her bone age is still in the puberty stage, which means that she can grow taller. Generally speaking, girls will have their epiphyses closed when they are 14-16 years old, but she is 25 years old this year!
“How old was your first menstrual period?” The local doctor thought it was unbelievable. A 25-year-old 172cm married adult female was still in the developmental stage. However, facing the problem of menstruation, she blushed and lowered her head. She fumbled and said that I had never had menstruation, “When I was a child, my mother took me to see a doctor. The doctor said that my development may be late, and menstruation may come after a few years.
“There is nothing wrong with your sprain, but I suggest you go to the endocrinology department of a major hospital immediately.” For this reason, she rushed to the First Affiliated Hospital of Zhejiang University School of Medicine.
Endocrinology experts look for the key, a chromosome report reveals the truth
Chief physician Dong Fengqin with rich clinical experience immediately felt that the woman may have a congenital hereditary disease-congenital adrenal hyperplasia.
This is an autosomal recessive genetic disease. It is caused by the birth defects of certain enzymes required in the process of corticosteroid synthesis. When the corticosteroid synthesis is insufficient, it will stimulate the pituitary to secrete ACTH, leading to the hyperplasia and secretion of the adrenal cortex too much cortisol precursor substance and lead to abnormal synthesis of sex hormones.
We can generally believe that this congenital genetic disease will cause some hormone levels in the human body to be disordered. Patients are often darker and may be accompanied by high blood pressure and hypokalemia. More patients will have clinical symptoms of sexual development disorders.
Sure enough, the adrenal hormone examination revealed a decrease in cortisol and an increase in ACTH. Sex hormones indicated that both testosterone and estrogen could not be detected. CT of the adrenal glands indicated: adrenal hyperplasia. Gynecological B-ultrasound prompts: the uterine and ovarian echoes are not clear in the pelvic cavity. This means that she may not have a uterus or ovaries. However, physical examination revealed that she still has a female vulva, but it is immature and lacks pubic and armpit hair.
17α-hydroxylase deficiency makes it difficult to distinguish between men and women. This disease is very easy to be misdiagnosed!
Through detailed examination, she was suffering from congenital adrenal hyperplasia caused by 17α-hydroxylase deficiency, and Pingping’s genetic disease was probably due to the marriage of her parents. Chief Physician Dong Fengqin said that 21-hydroxylase deficiency is the most common in congenital adrenal hyperplasia, which accounts for more than 90% clinically, and 11β-hydroxylase deficiency accounts for about 5%-8%;
“Am I both male and female?” The cognition of gender needs to be diversified
The psychotherapist Hu Jianbo, deputy director of the Department of Mental Health of the First Hospital of Zhejiang University, said that someone like her was considered a female gender from birth, and as an adult , her gender identity is also female . The physical sex is actually male, which cannot change her self-gender identity for more than two decades. Combined with her own personal wishes, then she can continue to live as a female for the rest of her life.