Lack of 21 - hydroxylase
Reduced activity of this enzyme is accompanied by inadequate synthesis of hormones such as cortisol and aldosterone, as well as the accumulation of intermediate substances (metabolites) as a result of metabolic disorders.The lack of the hormone cortisol leads to excessive secretion of pituitary adrenocorticotropic hormone (cerebral gland), which causes proliferation of the zone of the adrenal cortex, which is responsible for the formation of male hormones (androgens), thereby leading to an increase in their production in the body.Deficiency of aldosterone regulates the water-salt metabolism, and leads to some changes in the hormonal background.
The peculiarities characteristic manifestations of time and the onset of overt signs isolated (simple virility and solteryayuschuyu) and erased (later manifested) forms deficiency of the enzyme 21-hydroxylase.
simple form is 1/3 of all cases in violation of this particular enzyme.A newborn baby in utero began showing signs of increasing formation of androgens th
Solteryayuschaya form occurs in 2/3 of patients with an obvious deficiency of the enzyme 21-hydroxylase.Along with symptoms of increased formation of androgens and darkening of the skin on the child's 1-4 week of life the picture of acute adrenal insufficiency.This baby is not gaining weight, and sometimes even on the contrary, there is a progressive loss of body weight.There have been frequent regurgitation, vomiting, "fountain", diarrhea, dehydration (loss of excessive amounts of body fluids), poor circulation in small blood vessels, drop in blood pressure, heart palpitations.In the absence of adequate treatment for children dying at the age of 1-3 months.
When erased form of the disease the first symptoms appear before and during puberty.The girls say some acceleration of physical development and the "bone age" moderately severe virilization (the change of male type), which manifests itself in increased pilosis (hirsutism), increasing muscle mass, premature formation of male sex hormones in the adrenal glands, occurrence of various disorders of the menstrual cycle.Quite often in the reproductive age revealed infertility.In boys, this form of the disease occurs almost asymptomatic, but can lead to a decrease in the number of sperm produced and infertility.