Swyer syndrome is a rather rare congenital disease, the development of which indicates a violation of the structure of the play chromosome (we are talking about the absence of a specific gene or its isolated mutation).
Causes of the disease
As a rule, the direct cause of this disease is a point mutation of a specific gene located in the short arm of the chromosome, or the complete loss of this gene. This part of the chromosome is responsible for the synthesis of the protein involved in the development of the male embryo sex. As a result, since there is no effect of male sex hormones, the only option left for the fetus is to form according to the female type. As a result, the born child has a female phenotype with the "XY" karyotype.
Pathogenesis
Mutations or the absence of the SRY gene leads to a malfunction in the differentiation of Sertoli cells, and, as a result, to the underdevelopment of the seminiferous tubules.
As a result, despite the “male” karyotype XY, the genitals of the fetus are laid and formed according to the female type.
Clinical manifestations
Up to the onset of the puberty, the signs of Svayer syndrome are almost not externally expressed. And only as the girls grow older do certain features begin to appear:
- The insufficiency of hair growth in the axillary hollows and the external genital area.
- Inadequate, weak development of the mammary glands.
- Various degrees of underdevelopment, uterine infantilism.
- Hypoplasia of the vagina (less common).
- Mildly expressed secondary sexual characteristics - “eunuch-like” or intersex body type.
- Hypotrophy or atrophy of the genital mucosa.
- Underdevelopment of the external genitalia (labia and clitoris).
- Genital infantilism.
- In some cases, excessively active growth of the body and its individual parts is observed: the lower jaw, the shoulder girdle (as a result of which broad shoulders form), muscle mass.
- The onset of puberty in girls with Swyer syndrome is impossible due to the lack of estrogen in their body.
- Complete sterility.
Diagnostics
In the vast majority of cases, the disease is diagnosed at the age of 15-16 years, during puberty, when it becomes obvious that the patient does not have secondary sexual characteristics.
At the same time, girls having such a mutation, having reached this age, begin to turn to the gynecologist with complaints about the delay in the onset of menstruation.
Diagnosis is sometimes carried out as a result of dysplasia and malignancy of underdeveloped gonads.
The diagnosis of “Svayer syndrome” is based on the following factors:
- Physical examination of the patient.
- Ultrasound examination.
- Hysterosalpingography.
However, confirmation of the diagnosis is possible only with the help of a study of sex chromatin, which reveals the presence of a male karyotype with a female phenotype.
Treatment options
Treatment of Swyer syndrome is carried out in several directions.
- First of all, the ovaries are removed - due to the high probability of converting them to malignant tumors.
- After ovariectomy, hormone replacement therapy is prescribed. This contributes to the development of secondary sexual characteristics.
- In the case when the uterus is sufficiently developed, there is the possibility of bearing and giving birth to a healthy baby (pregnancy occurs as a result of in vitro fertilization).
This disease should be distinguished from the Swire-James-MacLeod syndrome, similar in name . This condition, as well as lymphangioleiomyomatosis similar in manifestations, is a pathology that affects the lung tissue. Swyer syndrome and lymphangioliomyomatosis are different diseases.