Medical tests and experiments talk about the reality of the origin of diseases from nervous overstrain. In a state of constant experience and stress, the human body is not able to adequately perceive the surrounding information, it becomes less concentrated and attentive. The manifestation of such symptoms is due to the increased content of cortisol, the hormone responsible for the hippocampus. The adrenal glands stop functioning normally if the amount of hormones is not regulated, and the hypothalamus is responsible for this process.
Congenital dysfunction of the adrenal cortex
The development of pathology occurs when transport protein compounds are disrupted. With their participation, the process of production of the hormone cortisol occurs in the adrenal cortex. For the growth and development of a living organism, hormones that adrenal glands are needed. If this process is violated, there are diseases that are hereditary. Congenital dysfunction of the adrenal cortex can be found under the name of hyperplasia or adrenogenital syndrome.
For all diseases in this section is characterized by a decrease in the synthesis of cortisol, resulting in an increase in secretion of adrenocorticotropic hormone, and the adrenal cortex thickens. There is a dysfunction of the same number in girls and boys. In total, physicians distinguish six clinical variants of this congenital pathology. With some of them, the functioning of the body is impossible, which leads to a high mortality of newborns with diagnosed pathology.
Almost all cases of congenital hyperplasia of the adrenal cortex are provoked by a defect in the protein of 21-hydroxylase. The prevalence of the disease is directly related to nationality.
On the video about adrenogenital syndrome:
Causes and sequence of the disease
Dysfunction of the adrenal cortex belongs to the group of hereditary diseases. Factors that increase the risk of the disease:
- the presence of pathology in the parent;
- parents are carriers of a gene that provokes a defect in transport proteins.
If both parents have such a gene in the pair, then the risk of manifestation of the disease will be in 25% of cases.
Genetic disruption of transport proteins results in inadequate production of cortisol and aldosterone in the adrenal cortex. Adrenal insufficiency arises and production of adrenocorticotropic hormone increases. With the development of adrenal hyperplasia, the production of male sex hormones, androgens, is enhanced.
The forms of manifestation of dysfunction
The clinical picture of dysfunction of the adrenal cortex depends on the degree of manifestation of disorders and is revealed in three forms:
- soltering;
- is a simple viril;
- is a non-classical form.
Most often in children there is a salt-losing form of congenital dysfunction( 3 cases out of 4), it is the result of complete blockade of the protein of 21-hydroxylase. In this case, there is a disruption in the production of glucocorticoids and the production of mineralocorticoids. Pathology begins during the period of intrauterine development and shows itself almost immediately after birth.
The first manifestations are:
- adrenal insufficiency;
- excess of androgens.
At birth, girls develop male-type genitalia:
- increases the clitoris;
- fusion of the labia is like a scrotum.
The internal genitalia remain normal and do not change their anatomical shape. In the absence of treatment and regulation of the hormonal sphere, the girls will not have menstruation.
Boys with congenital dysfunction of the adrenal cortex receive enlarged penis and increased scrotal pigmentation. Only timely correction of hyperandrogenia will help to avoid rapid progression. It is dangerous to quickly close growth areas of bones, which makes children stunted. In boys aged 2-3 years, early coarsening of the voice, abnormal development of the musculature and growth of hair in the inguinal zone may occur.
A simple viril form develops with partial preservation of the enzymatic activity of 21-hydroxylase. Symptoms of adrenal insufficiency do not appear, and the transformation of the genital organs corresponds to the salt-losing form.
If the enzyme of 21-hydroxylase has minor deviations, a post-pubertal form of congenital adrenal cortex dysfunction develops. This leads to a moderate decrease in the level of hormones and a slight increase in the concentration of adrenocorticotropic hormone. Infants do not have symptoms of adrenal insufficiency and abnormalities in the structure of the external genitalia. The problem can be identified by referring patients with a problem of infertility or menstrual dysfunction.
Symptoms of
Patients with abnormalities in the adrenal cortex observed:
- weakness and fatigue;
- decreased appetite;
- abdominal pain;
- vomiting and nausea;
- weight loss;
- is a strong pigmentation of the skin or mucosa;
- disorders in the work of the intestines( constipation or diarrhea);
- irritability, apathy;
- dizziness;Changes in taste, smell and hearing.
Clinical examination can reveal an increase in potassium in the blood, hypoglycemia and an increase in nitrogenous slags. There is a decrease in pressure and tachycardia.
In women, menstruation and infertility are observed. In some forms, the disease resembles polycystic ovary syndrome, which can be identified by blood analysis. The external structure of the genital organs in girls can be like men's with the normal preservation of the internal genitalia.
Infants have sluggish sucking, dehydration and acidosis, vomiting and adynamia.
Modern diagnostic methods for
Long-term diagnosis of congenital pathology in developed countries uses neonatal screening to detect deficiency of the protein of 21-hydroxylase. To do this, determine the level of 17-hydroxyprogesterone in the blood taken from the heel of the newborn. So you can identify the disease at an early stage and start hormone replacement therapy.
Anamnesis is collected and the presence of pathology in the family is revealed, then laboratory tests are performed on the level of 17-hydroxyprogesterone.
In the salt form, the aldosterone deficiency is determined by measuring the level of renin activity in the blood plasma. Genetic analysis is carried out and a gene that damages transport enzymes is identified. Ultrasound examination of the ovaries and the determination of metabolites of androgens in urine - even used in addition to clarify the diagnosis.
Treatment and clinical recommendations
For the purpose of treatment, they look at the causes of the development of pathology, the possibility to influence it. The patient is selected replacement hormone therapy for his entire life, it is necessary to compensate for the lack of cortisol and suppress the production of androgens in the adrenal cortex.
The drug is dosed individually, depending on age and body area. The maintenance dose is 10-15 mg / m 2.surface of the body. The prolonged action of prednisolone and dexamethasone makes them ideal for adults. At children at reception there can be a delay of body height, therefore to them the natural glucocorticoid, for example, tablets "Kortef" is recommended.
For replenishment of mineralocorticoids, fludrocortisone is used, and the doctor selects a dose according to the analyzes.
How pregnancy occurs with adrenal cortex dysfunction
In post-pubertal form of dysfunction, miscarriage, medical abortions and miscarriages, undevelopment of the fetus are possible. A pregnant woman may have dehydration, impaired electrolyte balance, loss of appetite. From 28 weeks, the condition improves. But hormone treatment can not be stopped. An early detachment of the placenta or a delay in pregnancy may occur. Childbirth and the puerperium are also stressful situations for the adrenal cortex. It is necessary to constantly monitor the level of hormones in the blood during pregnancy.
Prevention
If treatment of infertility with adrenal dysfunction for 3 years has not produced results, resort to surgery, continuing to take glucocorticoids. Forecasts are favorable for early detection of the disease and a properly selected dose of hormones.
No special food is provided, but as a result of a lack of the hormone aldosterone, salt depletion may occur. If the blood lack of salt, it is recommended to increase the amount of salt in the diet. Otherwise, the problem can lead to high levels of potassium in the blood and low blood pressure.
On the video about the treatment and prevention of adrenal diseases: