Androgen insensitivity syndrome (AIS)

Androgen insensitivity syndrome (AIS), also known as antiandrogen syndrome, is a syndrome of sex differentiation-associated disorders caused by mutations in the gene encoding the androgen receptor that causes this gene to be abnormal and leading to the androgen receptor not receiving the hormone, from which the body will develop in the direction of female under the influence of estrogen. Therefore, even though the testes are still developing normally, and androgen receptor production is normal, the external appearance will develop in a female direction (testicular feminization).
The degree of androgen insensitivity syndrome depends on the structure and sensitivity of the abnormal androgen receptor. If suffering from this syndrome, the patient can consult psychologists and can be treated to change the appearance of the genitals. People who have AIS syndrome are unable to have children, clinical examination has no uterus and ovaries, but patients still live healthy and normal lives.

At birth, babies with this syndrome often look like a normal girl, with no signs or abnormal testosterone levels or suspected that she does not have a uterus and ovaries. Based on the degree of androgen insensitivity, the signs of androgen insensitivity syndrome can vary and are classified into 3 types:
Mild antiandrogen syndrome: When mild androgen insensitivity is present, the patient will Like men, during development the genitals will not be affected. But this sensitivity can affect sperm formation or secondary male sex characteristics. Partial antiandrogen syndrome: For partial antiandrogen syndrome, there will be abnormal genitals, abnormal reproductive organs. Secondary sex characteristics are often affected and internal reproductive structures have changes such as: epididymis, vas deferens, seminal vesicles develop partially to fully; small prostate, testicles do not appear in the scrotum or the scrotum may split in two; enlarged breasts; pubic hair reduced; high voice. Total antiandrogen syndrome: For complete antiandrogen syndrome, the woman will be born at birth. Signs may not appear until puberty. In the genitals, lips and clitoris are usually normal, sometimes underdeveloped; shorter vagina, gonads testes but no ovaries); no epididymis, vas deferens, seminal vesicles; little or no pubic hair, sometimes no armpit hair; Breasts develop because the testosterone present in the testicles is converted to estrogen causing the female body trait. In addition, teeth may be large, limbs longer, and no menstrual periods. When antiandrogen syndrome is suspected, a chromosomal scan is only needed to confirm the diagnosis.

Due to the anti-androgen syndrome accompanied by complications such as the patient's permanent inability to have children and gender inconsistency, the patient's psychology is vulnerable. Therefore, when making informed decisions, the interests of the patient should be prioritized.
Usually the patient will feel confused and dissatisfied. Therefore, counseling and emotional support for patients need to be consistent and meticulous. Regarding the treatment of the disease, the following methods are commonly used:
Orchiectomy: Removal of the testicle is a matter of debate. The benefit of the testicles until after puberty is not using exogenous hormones. This is because the testosterone produced by the testicles is converted into estrogen. Orchiectomy results in an intra-abdominal testicle that may develop into a tumor (which may be benign or malignant) or physiologically impaired. Estrogen replacement: If an orchiectomy is used, estrogen is needed to support puberty such as bone growth and maturation. However, progesterone is not needed because the patient does not have a uterus. Vaginal enlargement: For patients who have difficulty in sexual intercourse due to the narrow vagina, the vagina can gradually widen because it has the ability to expand on its own after a long time of sexual intercourse. Having to reconstruct the vagina with surgery can cause certain complications. Anti-androgen syndrome is a rare, familial syndrome. The diagnosis of this syndrome is not difficult. However, in terms of treatment, medicine is still powerless against diseases related to genetic abnormalities in general and anti-androgen syndrome in particular. As soon as they realize that they have symptoms of anti-androgen syndrome, patients can go to Vinmec Health System hospitals for examination and treatment. Currently, Vinmec International General Hospital is one of the leading prestigious hospitals in the country, trusted by a large number of patients for medical examination and treatment. Not only the physical system, modern equipment: 6 ultrasound rooms, 4 DR X-ray rooms (1 full-axis machine, 1 light machine, 1 general machine and 1 mammography machine) , 2 DR portable X-ray machines, 2 multi-row CT scanner rooms (1 128 rows and 1 16 arrays), 2 Magnetic resonance imaging rooms (1 3 Tesla and 1 1.5 Tesla), 1 room for 2 levels of interventional angiography and 1 room to measure bone mineral density.... Vinmec is also the place to gather a team of experienced doctors and nurses who will greatly assist in diagnosis and detection. early signs of abnormality in the patient's body. In particular, with a space designed according to 5-star hotel standards, Vinmec ensures to bring the patient the most comfort, friendliness and peace of mind.