Androgen Insensitivity Syndrome

Androgen insensitivity syndrome refers to a genetic disease in which the testicles of men can secrete male hormones normally, but they cannot show secondary male characteristics, causing men to behave feminine. Androgen insensitivity syndrome is a symptom of genital malformation. Patients with this symptom cannot live like men. They can get married, but cannot have children. They can change their genitals to live like women.

Androgen insensitivity syndrome was previously known as "testicular feminization". It is a sex-linked recessive genetic disease with the characteristics of familial inheritance. It often occurs successively within the same family. There have been reports in China that seven people in three generations of a family were sick. Recent studies have shown that its onset is related to a gene mutation at the site of the androgen receptor in the X chromosome. For patients, although testicles exist and can secrete androgens, gene mutations cause the patient's secondary sexual characteristics to develop in the direction of women.

For those with androgen insensitivity syndrome, they can get married but cannot have children. Androgen insensitivity syndrome is an X-linked recessive genetic disease, so to prevent this disease, premarital examination is very necessary, especially for those with a family history of androgen insensitivity syndrome, older pregnant women, and pregnant women with a history of genetic diseases, genetic consultation and examination should be strengthened.

As for the surgical method, for patients with complete androgen insensitivity, since they are highly feminine and have no masculine manifestations, they only need to remove bilateral gonads and perform hernia repair surgery to live as a female. For patients with incomplete androgen insensitivity, the choice of gender depends on the degree of genital deformity. Patients with incomplete androgen insensitivity who live as a female need to remove bilateral gonads and, if necessary, undergo vulvar plastic surgery or vaginoplasty; patients with incomplete androgen insensitivity who live as a male need to undergo cryptorchid correction and external genital plastic surgery.

After the diagnosis of androgen insensitivity syndrome is confirmed, gonadectomy is now widely used to prevent gonadal deterioration in patients who live a female lifestyle. However, the timing and method of surgery should be determined based on the patient's social gender, the type of androgen insensitivity syndrome, the location of the testicles, and the degree of external genital deformity.

After a clear diagnosis and gonadectomy, patients with androgen insensitivity syndrome will still face many problems, including vaginal dysplasia, which should be taken seriously. Vaginal dysplasia may affect the quality of sexual life and cause anxiety and inferiority in patients. Therefore, for patients with androgen insensitivity syndrome, appropriate explanations and psychological counseling should be given after puberty, and the length of the vagina should be measured. For patients with a short vagina (<5 cm), appropriate treatment can be carried out, including vaginal reconstruction or vaginal pressure pressing. The latter is currently more widely used and has the best effect.

It is worth noting that after learning about the disease, patients often feel inferior and lonely, and lack confidence in their future and life. Therefore, relatives, friends and even all aspects of society should give them understanding and care. Because except for the physical defects, patients are no different from ordinary people in other aspects. In particular, lovers should be more considerate and caring, so as to help them build a perfect and happy life.

What kind of disease is androgen insensitivity syndrome? Why does the medical community no longer call this disease "testicular feminization"?

As early as 1802, medical literature described the symptom of "women with testicles"; in 1950, scholars noticed that such patients were insensitive to androgens; in 1953, while describing the clinical manifestations of the disease in more detail, scholars pointed out that the patients' feminine symptoms were due to the testicles producing an "estrogen-like hormone", so it was called "testicular feminization syndrome." With the improvement of detection technology, scientists discovered in 1974 that the cells of patients with "testicular feminization" have specific androgen receptors, and the patients' vulvar skin or some cells lack dihydrotestosterone binding protein, which suggests that the cause of the disease is related to the lack of activity of androgen receptors on target cells. Therefore, the name "androgen insensitivity syndrome" was proposed to better reflect the essence of the disease and avoid the adverse psychological impact of the name "testicular feminization" on patients. Therefore, the name "testicular feminization" is gradually being replaced by "androgen insensitivity syndrome".