Symptoms of congenital adrenal hyperplasia in children are usually noticeable immediately after birth. Most often, a child is born with increased body weight. It is impossible not to notice the abnormal size of the genitals - for example, boys have an enlarged penis, but the testicles may be too small. In girls, the clitoris is almost always large, and the labia are able to resemble the male scrotum in structure.
As you grow older, other symptoms of the disease are observed:
- Early coarsening of the voice;
- Late appearance of hair on the genitals and on the body;
- Increase in body weight disproportionate with age;
- Acne on the skin in childhood;
- Termination of skeletal formation by the age of 16;
- Short stature;
- Constant thirst;
- Muscle numbness;
- Decreased memory;
- Late onset of menstruation in girls.
Diagnostic methods can be of a different nature, however, it is very important that everything is done as early as possible. As for the methods, they can be as follows:
- in order to be able to identify the development of the disease in the early stages, neonatal screening is often used, with the help of which a protein deficiency can be detected, then replacement therapy begins on time;
- it is necessary to collect anamnesis and find out whether such pathologies occur in family members, after which appropriate laboratory-type studies are carried out;
if there is a salt-wasting form of the disease, then it is necessary to determine what level of aldosterone deficiency, and for this it is necessary to measure the renin activity in the blood plasma;
- it is necessary to analyze the genetic type and identify the gene that damages the transport type enzymes;
- in order to make the most accurate diagnosis, it is necessary to examine the ovaries using ultrasound.
Treatment of congenital adrenal hyperplasia
Basically, hormone replacement therapy is performed. Doctors adjust the concentration of steroid hormones that are produced by the adrenal cortex and mineralocorticosteroids. Hormone therapy can also be given to pregnant women if the diagnosis is made during gestation. Early diagnosis can prevent malformed genital development in girls. True, such treatment is still not recognized by everyone, because a pregnant woman may experience: swelling, high blood pressure, and also excess weight. There is no reliable information about the effect of therapy on the fetus.
In addition to hormone therapy, surgical intervention can be used to eliminate the defect in the development of the genitals. Doctors recommend performing surgical correction as early as possible, but it all depends on the individual case, as well as on the decision of the parents.