Lack of 21 - hydroxylase

August 12, 2017 17:51 | Genetic Diseases

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

at girls is manifested in the form of increasing the size of the clitoris and the labia minora moshonkoobraznyh formation, while there is an increase in boys genitals.In addition to changes in the external genitalia, can detect signs of chronic adrenal insufficiency and excess formation of adrenocorticotropic hormone.Last hormonal background leads to the deposition of an excessive amount of pigment in the skin (hyperpigmentation), whereby it acquires a dark color.In the future, the child marked acceleration of the pace of physical development and ossification false premature sexual development.At the same time, and boys and girls sexual development occurs on the male pattern.Final length of the body in the absence of treatment rarely reaches 150 cm, as happens early closure of growth zones.Any stressful situation (infection, surgery, trauma) can cause a crisis in these patients acute adrenal insufficiency.This crisis is primarily manifested progresses rapidly lowering blood pressure.The child feels the heartbeat.Pulse becomes very difficult to palpate due to the small blood vessels filled with the contraction of the heart.When viewed from the child can see the blueness of the skin around the mouth and on the tips of the fingers, the tip of the nose and ears.Since in this state, there is poor circulation in all the vessels, even the smallest, which nourish the skin, it becomes "marbled" appearance, appear bluish-purple spots as a result of congestion.The result is poor circulation in the kidneys, which leads to reduction in the amount of urine produced.This is evident decrease in the allocation of up to no.Child Consciousness remains unchanged for a long time, but if untreated, develop seizures, and coma.In addition to these symptoms, acute adrenal insufficiency may occur cramping abdominal pain, repeated vomiting, diarrhea, quickly develops in the body fluid deficiency (exsicosis).It also reduces muscle tone, the child becomes inactive.

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.