Pingping (pseudonym), a 25-year-old girl from Zhejiang, accidentally twisted her foot some Time ago and had an X-ray taken at the local hospital. The X-ray was like opening Pandora’s Box, and the orthopedic doctor told her to go to an endocrinologist after reading the X-ray.
The endocrinologist told her to check her chromosomes, which showed a result of “46XY”. This meant that after 25 years of living as a woman, her karyotype was male.
This result overwhelmed Ping’s Family, but it also solved the mystery of why Ping had not been married for more than a year without contraception and why there was no good “pregnancy” to come to her.
What happened to Ping? What disease caused her Life dislocation for so many years!
25-year-old girl accidentally sprained her ankle
But she found out that her bone age is at the stage of adolescent development
Pingping, a small town in Zhejiang girl, 25 years old, tall, her growth trajectory is no different from most girls of the same age, after graduating from college to find a job in her hometown, 24 years old with a blind date married to form a small family. Not long ago, she accidentally sprained her ankle going up the stairs, and because the pain was unbearable, she went to the local hospital to take X-rays to see if she had hurt the bone.
Once the X-rays came out, the local orthopedic surgeon was dumbfounded. Although the sprain was not serious, the test results showed that the epiphysis had not closed. This means that Ping’s bone age is still in the youth development period, which means that she can still grow taller, and generally speaking, girls’ epiphyses close when they are 14-16 years old, but Ping is already 25 years old this year!
”At what age did you have your first menstruation?” The local doctor thought it was incredible that a 25-year-old 172cm married adult woman’s bone age was still developing, but when faced with questions about menstruation, Ping blushed and lowered her head, stammering that she had never had a “period”, “When I was a child, my mother took me to see a doctor
”There is nothing wrong with your sprain, but I suggest you go to the endocrinology department of a large hospital immediately.” For this reason, Ping rushed to the first hospital affiliated with Zhejiang University School of Medicine.
The endocrinologist’s eyes were sharp to find the key
A chromosome report reveals the truth
”Doctor, our doctor there said that it is not normal for my epiphysis to be closed at this age, plus I have never had a period, so I should come and find out the reason.” Ping was sitting in the specialist clinic of Dr. Dong Fengqin, the deputy director of the endocrinology department, talking breathlessly and in a low mood, “Also, I have been preparing for pregnancy for a year, but I have not been able to conceive, is it also related to this?”
”Do you usually feel dizzy and weak?” Dong Fengqin looked at Pingping, who was tall but a little dark, and suggested that she should measure her blood pressure and potassium. I recommend you to check the sex hormones, adrenal cortical function as well as adrenal CT and gynecological ultrasound.”
Dr. Dong Fengqin, who has extensive clinical experience, vaguely thinks that Ping may have a congenital genetic disorder – congenital adrenocortical hyperplasia.
This is an autosomal recessive genetic disorder caused by a congenital defect in certain enzymes required in the synthesis of corticosteroids. When corticosteroid synthesis is not sufficient, the pituitary gland is stimulated to secrete more adrenocorticotropic hormones, resulting in adrenal cortex hyperplasia and excessive secretion of cortisol precursors and abnormal synthesis of sex hormones.
In general, this congenital genetic disorder leads to hormonal disorders in the body, and patients tend to be darker and may have hypertension and hypokalemia, and some patients may have clinical symptoms of sexual developmental disorders.
As expected, the adrenal hormone test indicated a decrease in cortisol and an increase in adrenocorticotropic hormone, while the sex hormones indicated that testosterone and estrogen could not be measured, and the adrenal CT indicated adrenocortical hyperplasia. Gynecologic ultrasound suggested that there was no clear uterine or ovarian echo in the pelvis. This means that Ping may not have a uterus as well as ovaries. However, the physical examination revealed that Ping still had a female vulva, but was childishly developed and had no pubic or axillary hair.
”It is likely that you have a condition called congenital adrenal hyperplasia.” Dr. Dong Fengqin, the chief doctor, suggested Ping to check her chromosome karyotype again, and it was the karyotype result of chromosome “46XY” that put Ping in a dilemma in her life, as Ping, who was considered a girl from birth, found herself to be a male in chromosome biology after getting married and starting a family.
”Doctor, even if I have this genetic disease, why would I have a gender dysphoria thing?” Ping couldn’t accept the fact that if he was genetically a male, why did he have neither a laryngeal knot nor male reproductive organs?
The 17α-hydroxylase defect makes it impossible to distinguish between men and women, and this disease is extremely easy to misdiagnose!
Through detailed examination, Ping is suffering from congenital adrenocortical hyperplasia caused by 17α-hydroxylase defect, and it is likely that Ping suffers from this genetic disease due to the inbreeding of Ping’s Parents. Dr. Dong Fengqin, director of congenital adrenocortical hyperplasia, said that 21-hydroxylase deficiency is the most common, accounting for about 90% of clinical cases, 11β-hydroxylase deficiency accounts for about 5%-8%; and this type of 17α-hydroxylase deficiency is only 1%.
17α-hydroxylase deficiency will lead to insufficient synthesis of adrenal cortisol, which will stimulate the secretion of adrenocorticotropic hormone and increase the synthesis of adrenal cortical hormones (corticosterone and 11-deoxycorticosterone), resulting in hypertension and hypokalemia; 17α-hydroxylase deficiency will also affect the synthesis of sex hormones, and the synthesis of androgens and estrogens will be impaired. Therefore, female patients will show sexual naïveté, lack of secondary sex characteristics development and primary amenorrhea at puberty, while male patients show male pseudohermaphroditism, with external genitalia resembling a girl, but without uterus and ovaries, and may have a blind-ended vagina, while internal genitalia are male, with small and underdeveloped testes, which may be located in the abdominal cavity, in the inguinal region or in the scrotal folds of the labia.
”But we didn’t find the cryptorchid in Ping’s body, probably because of the degeneration and atrophy of the cryptorchid at an older age.” Director Dr. Dong Fengqin said that congenital adrenocortical hyperplasia can easily be misdiagnosed as primary aldosteronism, and both diseases have symptoms of hypertension, hypokalemia, and adrenal hyperplasia, and many times also take into account whether there is a disorder in the patient’s sexual development, combined with karyotype examination as well as genetic testing to confirm the diagnosis.
Currently, Ping’s symptoms of hypertension and hypokalemia have completely improved through medication, but regarding the Perception of gender, Dr. Dong Fengqin, the chief doctor, suggested that Ping could choose her next direction in life through consultation with a mental health specialist.
”I am both male and female?”
Have a diverse view on gender perception
Dr. Hu Kin-por, deputy director psychotherapist of the Department of Mental Health at ZJU, said that for someone like Ping, who was considered to be of female gender from birth and whose own gender identity was female during her growing up, even if she found out by chance that her biological gender was actually male due to certain diseases, this would not change her self-gender identity for more than 20 years, and combined with her own personal will, then the rest of her life could She can continue to live her life as a woman.
The general public’s perception of gender is as clear as the signs on the doors of many public restrooms: male and female. But with the gradual enlightenment of a pluralistic society, there is a type of transgender person who is brave enough to appear in the public eye.
What is a transgender person? For example, A was born as a male, but as he grows up, he re-choses his gender identity as a female with the awakening of his sexual consciousness, and he feels that he is actually a female with male physical characteristics and male biological sex. He wants to wear women’s clothes and go to the women’s bathroom as normal women.
Transgender is a general term for people whose gender identity, gender expression or gender behavior does not correspond to their biological sex at birth. Transgender people are different from homosexual or bisexual people in that their psychological gender is opposite to their biological gender, also known as male body and female heart or vice versa, which is called gender identity disorder or transsexualism among medical students and can cause serious gender anxiety and self-identity crisis.
In the current revision of WHO’s ICD-11, Gender Identity Disorder (GID) was officially renamed Gender Incongruence and removed from the list of mental disorders.
”Many transgender people choose to accomplish this gender identity through gender reassignment surgery, a group of people we call transgender.” Stating that he sees a lot of transgender people in clinical counseling, if the visitor has a strong desire and action to change sex, then he generally recommends that the transgender person first be evaluated and treated by a psychiatrist and psychotherapist and try to live the opposite of their biological sex for at least a year, and if this life makes them feel comfortable and does not create significant psychological problems, then he recommends that through an evaluation with an orthopedic specialist After the appropriate conditions are met, gender reassignment surgery is chosen.
”For transgender people, what they need is not only sex reassignment surgery, but also social tolerance.” Professor Hu Shaohua said it is good to have advanced surgical procedures to help them accomplish their identity physiologically, but social acceptance and tolerance is what allows them to dare to walk in the sunlight.
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