Androgen insensitivity syndrome (testicular feminizing syndrome, Morris syndrome) is one of the most common causes of primary amenorrhea. This disorder is closely related to androgen insensitivity, which in turn is a consequence of the genetic mutation of the androgen receptor. Changes at the level of genetics take place in the womb.
Androgen Insensitivity Syndrome( Testicular Feminizing Syndrome ,Morris Syndrome ) involves the occurrence of labia, vagina and clitoris, i.e. the female genitalia with the simultaneous presence of the testicles inside the abdominal cavity, i.e. typical male organs. Despite changes at the genetic level, there is no evidence of an inheritance of the tendency to develop this type of pathology.
The cause of Morris syndrome is the mutation of a specific group of receptors, which completely changes the body's sensitivity to circulating androgens. This translates into the lack of response to the produced testosterone, more precisely, the tissues do not capture the presence of this hormone in the body. Testosterone is a typical male hormone that is associated with the proper development of male sexual characteristics, i.e. testicles, penis, scrotum, and at a later age it is responsible for the proper development of characteristics, i.e. male hair type or a change in voice timbre.
In the absence of tissue response to testosterone, female hormones and estrogens predominate in the body, which determines the development of female genital organs. In the course of chemical reactions, the excess of unused testosterone is converted into estradiol, which enhances the effect of estrogens.
Symptoms of testicular feminization syndrome
The characteristic symptoms of androgen insensitivity are:
- presence of female genitalia, i.e. labia, vagina, clitoris, which is interpreted as a female sex immediately after birth
- no ovaries, fallopian tubes, uterus
- presence of testicles
- lack of male external genitalia: scrotum, penis
- female hair
The first alarming symptom is the lack of the first menstruation, which is sometimes the reason for visiting the gynecologist. The reason is the absence of the ovaries and uterus. The scabbard is usually very short and usually has a blind end.
Morris syndrome: treatment
Treatment of the venous feminizing syndrome is extremely difficult and requires experience. Apart from surgical treatment, psychological care is necessary, and in the most severe cases, even a psychiatrist. This is necessary, because being different is sometimes a sufficient reason to attempt suicide.
Gender identity is quite an important aspect. If the boy, despite the presence of internal male organs, is convinced of the opposite sex, it should be possible to emphasize the female features. The surgical method can restore the vagina, remove the testicles. In a situation where the boy identifies with the male sex, plastic surgery is recommended to restore the male genitalia. Unfortunately, due to the lack of sensitivity to androgens, hormone therapy, i.e. the supply of testosterone, has no effect.
Androgen Insensitivity Syndrome: Differentiation
Primary amenorrhea should be a reason to exclude other diseases that may have a similar manifestation. The possibility of, for example, Turner syndrome, a genetic condition in which the clinical picture is a consequence of the absence of the X chromosome, should be considered. Apart from the absence of menstruation, girls with this syndrome are characterized by short stature, a wide, webbed neck, wide-spaced nipples, valgus knees or a low-descending skin line. head. Another reason for primary amenorrhea may be anatomical defects of the female reproductive organs.
The possibility of coexistence of endocrine disorders, such as hypothyroidism or hormonal disorders on the hypothalamic-pituitary-ovary axis, should be considered.
Primary amenorrhea may also be associated with excessive restriction of the caloric content of meals.