Insufficiency of 21-hydroxylase

The decrease in the activity of this enzyme is accompanied by inadequate synthesis of such hormones as cortisol and aldosterone, as well as the accumulation of intermediates( metabolites) as a result of metabolic disorders. Lack of hormone cortisol leads to excessive secretion of adrenocorticotropic hormone pituitary( gland of the brain), which causes the growth of that area of ​​the adrenal cortex, which is responsible for the formation of male hormones( androgens), thereby leading to an increase in their formation in the body. Deficiency of aldosterone regulating water-salt metabolism also leads to some shifts in the hormonal background.

According to the peculiarities of the characteristic manifestations and the time of appearance of the signs of the disease, distinct forms of the deficiency of the enzyme of 21-hydroxylase are isolated( simple virile and salt-losing) and erased( late-manifesting) form.

A simple form is 1/3 of all cases of disease when this particular enzyme is violated. The newborn child has signs of a intra-uterine increase in androgen formation, which is manifested in girls as an increase in the size of the clitoris and formation of the scrotum labia, while the boys have an increase in the genitalia. In addition to changes from the external genitals, it is possible to identify signs of chronic adrenal insufficiency and excessive formation of adrenocorticotropic hormone. The last violation of the hormonal background leads to the deposition of excess pigment in the skin( hyperpigmentation), resulting in a dark color. In the future, the child noted the acceleration of physical development and the rate of ossification, false premature sexual development. In this case, both in boys and girls, sexual development takes place according to the male type. The final length of the body, provided that there is no treatment, rarely reaches 150 cm, since early closure of growth zones occurs. Any stressful situation( infectious disease, surgery, trauma) can cause in these patients a crisis of acute adrenal insufficiency. This crisis is primarily manifested by a rapid progressive decrease in blood pressure. In this case, the child feels palpitations. The pulse becomes very difficult to probe because of the small filling of blood vessels with a contraction of the heart. When examining the child, you can see the cyanosis of the skin around the mouth, as well as at the fingertips, tip of the nose and ears. Since in this condition there is a disturbance of blood circulation in all blood vessels, even in the smallest ones that nourish the skin, it acquires a "marble" appearance, there are bluish purple spots as a result of blood stagnation. As a result, there is a violation of blood circulation in the kidneys, which leads to a decrease in the amount of urine formed. This is manifested by a decrease in its excretion until complete absence. The child's consciousness remains unchanged for a long time, however, in the absence of treatment, convulsions and coma are developed. In addition to the above signs, acute adrenal insufficiency can be manifested by cramping pain in the abdomen, repeated vomiting, diarrhea, a shortage of fluid in the body( excoxicosis) develops rather quickly. Also, muscle tone decreases, the child becomes inactive.

Soltering form is found in 2/3 of patients with a clear deficiency of the enzyme 21-hydroxylase. Along with the symptoms of increased androgen education and darkening of the skin, a picture of acute adrenal insufficiency develops at the child's 1-4 weeks of life. Thus the child badly adds in weight, and sometimes even on the contrary, there is a progressive loss of weight of a body. There are frequent regurgitations, vomiting "fountain", diarrhea, dehydration( loss of excess fluid by the body), impaired blood circulation in small vessels, a drop in blood pressure, increased heart rate. In the absence of adequate treatment, children die at the age of 1-3 months.

With the erased form of the disease, the first signs appear before and during puberty. Girls are noted for some acceleration of physical development and "bone age", moderately pronounced virilization( change in the male type), which is manifested in increased hairiness( hirsutism), increased muscle mass, premature formation of male sex hormones in the adrenal glands, the occurrence of all kinds of irregularities in the menstrual cycle. Quite often in the reproductive age, infertility is detected. In boys, this form of the disease is almost asymptomatic, but can lead to a decrease in the amount of sperm and infertility.