Svayer syndrome: features of the disease and treatment options

Svayer syndrome - this is a fairly rare congenital disease, the development of which indicates a violation of the structure of the yerk chromosome (it is about the absence of a specific gene or its isolated mutation).

Causes of the disease

Typically, the immediate cause of the disease is a point mutation of a particular gene located in the short arm of the yerk chromosome, or the complete loss of this gene. This part of the chromosome is responsible for the synthesis of the protein that takes part in the development of the sex of the embryo in the male type. As a result, since the effect of male sex hormones is absent, the fetus remains the only option - to be formed according to the female type. As a result, the child born has a female phenotype with the karyotype "XY".

Pathogenesis

Mutations or lack of the SRY gene leads to a malfunction in the differentiation of Sertoli cells, and, as a consequence, to the underdevelopment of the seminiferous tubules.

As a result, despite the "male" karyotype of XY, the sexual organs of the fetus are laid and formed according to the female type.

Clinical manifestations

Up until the onset of puberty, the symptoms of Svayer's syndrome are outwardly virtually indistinguishable. And only with the growth of the girls are beginning to manifest certain features:

• Inadequacy of axillary tresses and external genitalia.
• Insufficient, mild gland development.
• The various degrees of underdevelopment, the infantilism of the uterus.
• Hypoplasia of the vagina (occurs less frequently).
• Slightly expressed secondary sexual characteristics are "eunuch-like" or intersexual body type.
• Hypotrophy or atrophy of the mucous membrane of the genital organs.
• Underdevelopment of the external genitalia (labia and clitoris).
• Genital infantilism.
• In a number of cases, too much growth of the body and its separate parts is observed: the lower jaw, the shoulder girdle (which results in the formation of broad shoulders), and muscle mass.
• The onset of puberty in girls with Svayer syndrome is impossible because of the absence of estrogens in their bodies.
• Complete sterility.

Diagnostics

In the overwhelming 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 who have such a mutation, reaching this age, begin to contact the gynecologist with complaints about the delay in the onset of menstruation.

Sometimes the diagnosis is due to dysplasia and malignancy of the 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 the study of sexual chromatin, which reveals the presence of a male karyotype with a female phenotype.

Treatment options

Treatment of Svayer syndrome is carried out in several directions.

1. First of all, the ovaries are removed because of the high probability of their transformation into malignant tumors.
2. After ovariectomy, substitution treatment with hormonal drugs is prescribed. This contributes to the development of secondary sexual characteristics.
3. In the case when the uterus is developed enough, there is the possibility of bearing and the birth of a healthy child (pregnancy occurs as a result of in vitro fertilization).

This disease should be distinguished from the similar in name of the Svayer-James-McLeod syndrome. This condition, like the lymphangioleiomyomatosis, which is similar in manifestations, is a pathology that affects the lung tissue. Svayer syndrome and lymphangioleiomyomatosis are different diseases.