Russell-Silver syndrome: causes, symptoms, diagnosis, treatment
In modern medical practice there are a large number of various diseases. Some are well-known, acquired in the process of life, others - congenital. Russell-Silver syndrome is one of the genetic diseases.
Features of the disease
Another name for this syndrome is known, such as the dwarfism of Silver-Russell. Pediatricians A. Russell and H. K. Silver, in whose honor the disease was named, were engaged in the study of intrauterine growth retardation.
A characteristic feature of this disease can be called a delay in physical development during the period of gestation, namely the violation of the formation of the skeleton of the child. Subsequently, there is a late closing of the spring. Inherited causes are not well understood. One person in 30 thousand gets sick with this syndrome.Gender signs do not affect the course of the disease. The pathogenesis of Russell-Silver syndrome will be discussed below.
The root cause of the disease are changes at the genetic level, in which the nature of inheritance is not periodic or systemic. Basically, seven (ten percent of cases), eleven, fifteen, seventeen, eighteen chromosomes are subject to disorders, which are fundamental in shaping a person's height. Small stature most often arises from the fact that the child inherits these chromosomes from the mother. This process is called homogeneous maternal disomy. A child who is born with this disease has a very small body weight (not more than 2500 g), despite the fact that the pregnancy is full-term. In the process of life growth is also observed in adults. Body weight is fully consistent with age, sometimes it is more than the norm.
Symptoms of Russell-Silver syndrome
The work of the urogenital system is also disturbed due to cryptorchidism (a change in the reproductive system when the testicles are atypical for this), hypospadias (urethra is not in its place), the underdeveloped penis and scrotum.External changes of a person with this disease take place, which is manifested in the asymmetry of the body, this applies to the face and body, the length of the arms and legs.
Russell-Silver syndrome also affects the shape of the face. The cerebral part of the cranium, where the brain is located, is much larger in size than the front part of the brain, while there is a clear increase in violation of proportions. The face takes on a triangular appearance, where the forehead is convex, and the lower jaw and mouth are much smaller, such a change is called pseudohydrocephaly. The corners of the lips are slightly lowered down, the palate is raised, sometimes it even occurs with a cleft. Ears in a patient with a syndrome are most often bulging. In addition, this can be attributed to external signs: a violation of the secretion of sebaceous glands, a narrow chest, a convex shape of the forward spinal column; curvature of the little finger.
Diseases of the internal organs that accompany the syndrome
In addition to external signs, such as small growth and distortion of facial features, problems with internal organs should also be noted. This syndrome (signs indicating a violation of appearance,presented earlier) has an impact on the functioning of the kidneys due to the fact that they were incorrectly formed (horseshoe shape with an extended renal pelvis and tubular acidosis). Changes are also observed on the part of the reproductive system: irrespective of the sex, puberty is characteristic in the early stages. Thirty percent of people are about six years old. This is due to the fact that there is a significant increase in the number of sex hormones, but intellectual abilities are normal.
Diagnosis of Russell-Silver syndrome
This disease is diagnosed in childhood. Such a diagnosis is made by a pediatrician when examining a sick child. In addition to the standard examination, the patient passes tests for the laboratory to determine the level of sugar in the blood. There are frequent cases when patients who are given such a diagnosis have a decreased level of glucose in the blood. Testing is also conducted to determine chromosomal abnormalities. Most often, these problems have a place to be.
The patient must pass a test for the number of growth hormones, since this syndrome has a drawback.It is also necessary to analyze the formation of the skeleton, in order to exclude factors that can give a false positive result. The diagnosis is mainly clinical, but it can be confirmed by a genetic abnormality.
Features of treatment
As well as the main number of hereditary diseases, Russell-Silver syndrome does not imply a special treatment. All methods of therapy for this disease are focused on providing the best living conditions. With slow growth, growth hormone is prescribed to patients. Regarding early puberty, special hormone preparations are prescribed.
There are some cases when with this ailment it is necessary to resort to the help of a plastic surgeon. In addition, sometimes a sick child has to be transferred to individual training due to the fact that the child has mental retardation, but the intelligence is normal with this syndrome. These measures have to be applied due to psychological disorders in the child in the process of his education in a regular school.
With a diagnosis of Russell-Silver syndrome, patients must be registered with an endocrinologist and regularly undergo medical examinations.
Women can both conceive a child and endure it.The probability of heredity of this disease is individual in each individual case.
If a girl is not planning a pregnancy, and her concerns are limited only to excessive hair growth, purulent skin rashes and menstrual disorders, then it is necessary to undergo therapy with medications containing antiandrogens and estrogens.
However, the use of glucocorticoid drugs, restoring the work of the ovaries, has virtually no effect on the reduction of excess hair. In the case of obvious virilism of the genital organs, a plastic corrective surgery is performed, which consists in removing the adrenogenital signs, which can manifest from the hypertrophy of the clitoris to the full masculinization of the genitals.
In addition, if the cause of virilism is a tumor in the adrenal gland or ovary, then a surgical method of treatment is recommended. How many live with Silver-Russell syndrome? Consider further.