Swyer's syndrome is a rather rare congenital disease, the development of which indicates a violation of the structure of the y chromosome (we are talking about the absence of a certain gene or its isolated mutation).
Causes of disease development
As a rule, the direct cause of this disease is a point mutation of a certain gene located in the short arm of the Y chromosome, or the complete loss of this gene. This section of the chromosome is responsible for the synthesis of a protein that takes part in the development of the sex of the embryo according to the male type. 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 an "XY" karyotype.
Pathogenesis
Mutations or absence of the SRY gene leads to a failure in the differentiation of Sertoli cells, and, as a result, to underdevelopment of the seminiferous tubules.
As a result, despite the "male" XY karyotype, the genital organs of the fetus are laid down and formed according to the female type.
Clinical manifestations
Up to the onset of puberty, signs of Swyer's syndrome outwardlypractically not expressed. And only as the girls grow older, certain features begin to appear:
- Lack of hair growth in armpits and external genital area.
- Inadequate, poor development of the mammary glands.
- Varying degrees of underdevelopment, uterine infantilism.
- Vaginal hypoplasia (less common).
- Mild secondary sex characteristics - "eunuch-like" or intersex body type.
- Hypotrophy or atrophy of the mucous membrane of the genital organs.
- Underdevelopment of the external genitalia (labia and clitoris).
- Genital infantilism.
- In some cases, there is an excessively active growth of the body and its individual parts: the lower jaw, shoulder girdle (resulting in the formation of broad shoulders), muscle mass.
- The onset of puberty in girls with Swyer's syndrome is impossible due to the lack of estrogen in their body.
- Complete sterility.
Diagnosis
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 with this mutation, having reached this age, begin to turn to the gynecologist with complaints of delayed menstruation.
Sometimes the diagnosis is carried out as a result of dysplasia and malignancy of underdeveloped gonads.
Diagnosis of Swyer's Syndromebased on the following factors:
- Physical examination of the patient.
- Ultrasound examination.
- Hysterosalpingography.
However, confirmation of the diagnosis is possible only with the help of the study of sex chromatin, which reveals the presence of a male karyotype in a female phenotype.
Treatment options
Swyer's syndrome is treated in several ways.
- First of all, the ovaries are removed - due to the high probability of their transformation into malignant tumors.
- After oophorectomy, hormone replacement therapy is prescribed. This promotes the development of secondary sexual characteristics.
- When the uterus is sufficiently developed, it is possible to bear and give birth to a he althy child (pregnancy occurs as a result of in vitro fertilization).
This disease should be distinguished from the similarly named Swyer-James-McLeod syndrome. This condition, like lymphangioleiomyomatosis, similar in manifestation, is a pathology that affects the lung tissue. Swyer's syndrome and lymphangioleiomyomatosis are different diseases.
