Congenital dysfunction of the adrenal cortex: diagnosis and treatment
Congenital dysfunction of the adrenal cortex isa wide variety of hereditary diseases that arise as a consequence of defects in protein transit compounds. In this article, we will talk about what these diseases are, and also about the methods of their diagnosis and treatment.
A few words about the disease itself
Adrenal glands secrete a special varietyhormones that take an active part in the processes of development and growth of the whole organism. In other words, congenital dysfunction of the adrenal cortex is referred to as adrenogenital syndrome or hyperplasia of the adrenal cortex.
So, the appearance of pathologies of the adrenal glandgroup is usually associated with a decrease in cortisol production. And this, in turn, is the cause of increased secretion of adrenocorticotropic hormone. Thus, patients develop significant thickening of the adrenal cortex.
The problem of the disease in the modern world
Congenital dysfunction of the adrenal cortex isa disease transmitted by inheritance. In this case, this pathology is observed with the same frequency as in individuals of the female sex, and in the male. There are several clinical varieties of each ailment, and almost every one of them is incompatible with life. That is why babies with this disease very often die at birth.
As shown by medical statistics, congenitaldysfunction of the adrenal cortex most often occurs as a result of the detection of defects of the twenty-first hydroxylase. Also the prevalence of this disease depends on the race. For example, if you take representatives of the white race, then this ailment will be seen in one baby out of 14 thousand. While the Eskimos will have every two hundred and eightieth baby sick.
Fortunately, to date, the problem of combatingThese ailments are completely solved, however only in the most developed countries of the world. If this pathology is discovered even in infancy, health workers conduct special studies that help to identify the congenital disease as early as possible. Thus, it is possible to start a properly selected hormonal treatment even before the first symptoms of adrenal insufficiency appear.
Factors that increase the risk
The most common congenital dysfunction of the cortexadrenal gland arises if the disease was detected at least one of the parents, or if the parents are direct carriers of the gene responsible for the transit of proteins that are needed to produce hormones of the adrenal cortex. If such a gene was found in both parents, then there is a probability of twenty-five percent that the baby will be diagnosed with this pathology.
What leads to the development of dysfunction
It is very important to understand how exactly passesa mechanism of development of dysfunction of the adrenal cortex. It is worth considering that as a result of an incorrect transfer of proteins, the amount of aldosterone and cortisol in the adrenal gland will decrease. And this is the reason for increasing the production of adrenocorticotropic hormone by the pituitary gland. This hormone is responsible for regulating the proper functioning of the adrenal glands.
If adrenocorticotropic hormones are producedin excessively large amounts, this leads to a phenomenon such as hyperplasia. Also, there will be increased excretion of male hormones. A large concentration of androgens leads to deformities of the genital organs, as well as to excessive growth of hair on the face and throughout the body.
Forms of the disease
In medical practice, there are three forms of this disease:
- Uncomplicated, or viril form. This form usually occurs with a slight deficit of the protein of the twenty-first hydroxylase.
- The soltering form of congenital dysfunction of the adrenal cortex is characterized by a deeper deficiency of this enzyme.
- The hypertonic variety arises from a significant shortage of the enzyme 11b-hydrolactase.
Symptoms of the disease
The first form is usually accompanied by the presence of suchsymptoms like penis-like clitoris, large scrotum labia or urogenital sinus in girls. In individuals of both males and females, a very rapid development not only of the physical plane, but also of the sexual one is observed. Moreover, boys have an isosexual type of development, and girls have heterosexual development.
Soltering form of congenital bark dysfunctionThe adrenal gland is usually observed in children. In addition to the above symptoms, the first serious violations of the adrenal cortex are also added. At the same time, appetite, electrolyte metabolism significantly worsens, and the body weight does not increase. In addition, very often hypotension develops and dehydration of the organism occurs. If the signs could not be recognized at the first stages of the disease, then there is a huge risk of death in the presence of the phenomena of collapse. If the right treatment was selected from the very beginning, then with the age such phenomena can be completely ruled out.
Congenital adrenal cortex dysfunction in womenleads to a change in the structure of the external genitalia. At the same time, the large number of male hormones that are secreted by androgen does not affect the differentiation of internal female genital organs. Usually the development of the ovaries and the uterus is absolutely normal. The external genitalia are irregular in shape at the time of the birth of the girl. In medical practice, there were very many cases when at the birth of a girl she was assigned a masculine gender.
Due to the negative effects of androgenspatients begin to grow very quickly from birth. Very early they have secondary sexual characteristics. In addition, all patients have low growth and a rather disproportionate physique. The pelvis remains very narrow, and the shoulders are excessively wide. In this case, the males do not begin to grow mammary glands, and menstruation does not appear. At the same time, the external genitalia mutate, the hairline appears on the whole body, and the voice becomes ever lower.
Male patients develop according towith the isosexual type. Even in infancy, you can notice hypertrophy of the genital organ, and the testicles usually have a small size. In the adolescent period, patients often develop tumorous formations on the testicles. Very often men with this pathology suffer infertility.
Hypertensive form of the diseaseis also characterized by all the above symptoms, but also accompanied by high blood pressure. When conducting special surveys, doctors notice such indicators: the presence of protein in the urine, the borders of the heart are dilated, and the vessels of the fundus are changed.
Nonclassical form of the disease
Nonclassical form of congenital cortical dysfunctionThe adrenal gland is considered the simplest and easiest form of the course of the disease. In this case, 21-hydroxylase is produced in a volume slightly less than normal. In this case, usually the genitals for both men and women develop correctly, and the first signs of an ailment can be seen only after the adolescent period. Most often the nonclassical form of congenital dysfunction of the adrenal cortex is seen in women who are troubled by such problems:
- permanent violations in the cycle of menstruation;
- medium or severe form of acne;
- you can not get pregnant;
- some areas on the body acquire a masculine hairline.
Most often the deviations are insignificant, thereforeno effect on the function of procreation is not provided. Women find out when trying to get pregnant with the presence of the disease "congenital dysfunction of the adrenal cortex". The non-classical form, which is treated only in women, usually does not cause serious unrest in the males. Therefore, treatment is not advisable.
Diagnosis of the disease
It is very important to determine in the childhoodsuch a disease as congenital dysfunction of the adrenal cortex. Diagnosis allows you to determine the form of the disease, and helps to understand the further treatment.
To all babies born with conspicuous abnormalities inthe structure of external genitalia, doctors conduct a special diagnosis, which allows you to determine the sex chromatin, as well as determine the karyotype. Most often, in the congenital form of this pathology in small patients, there is an excessive amount of male hormone in the blood. To determine its level, a screening test should be carried out. Usually such testing shows that the concentration of this hormone in the blood is exceeded several times.
As is known, congenital dysfunction of the cortexadrenal glands in children is accompanied by very rapid growth of bone tissue. In order to study its structure and structure, doctors use the method of instrumental diagnostics. In this case, an X-ray is made, and the bone age of the patient can already be determined from the pictures. If there are pathologies, then usually the condition of all joints and bones by age is much faster than the age of the patient.
If at birth, the girls have seen signs of hermaphroditism, then the doctors conduct ultrasound of female genital organs. In this case, their structure usually does not differ from the norm.
Also in the first year of the baby's life, doctors conductdifferential diagnostics. It allows you to determine whether hermaphroditism is false or true. In this case, the diagnostic method is karyotyping. And, of course, it is necessary to determine the level of the male hormone androgen.
In addition to the methods listed above, anamnestic data is also analyzed. The main and most important criterion can be called the level of 17-hydroxyprogesterone.
Congenital dysfunction of the adrenal cortex in childrencan be detected as early as the fourth or fifth day after birth through a procedure such as neonatal screening. This analysis involves testing 17-hydroxyprogesterone in the blood taken from the heel. Carrying out such an analysis will help to know about the presence of pathology in the first days of life. This will help start treatment in a timely manner.
Methods of treatment
Congenital dysfunction of the adrenal cortex,the symptoms of which are described above, due to an innate nature, should be treated with constant replacement therapy with a drug such as Prednisolone, as well as with all sorts of its analogues. The constant intake of glucocorticoids in the body has the most positive effect on him. On the one hand, these substances can eliminate adrenal insufficiency of innate origin. On the other hand, drugs containing hormones can suppress the excessive secretion of adrenocorticotropic hormone. In addition, the feedback mechanism begins to be regulated, which means that the level of hydrogeneration decreases as much as possible.
If the disease is salt-losing form, thenthere is also a deficiency of mineralocorticoids, then salt solutions and acetate of deoxycorticosterone are also added to the treatment. In addition, all girls also need surgical intervention, which can remove the hypertrophic clitoris.
Method of conservative treatment
Congenital adrenal cortex dysfunction, treatmentwhich can really cope with this pathology, you need to start as early as childhood. Do this immediately after the disease has been identified.
Most often for the purpose of substitution therapy, doctorsadvise to use exactly the drug "Prednisolone". He has all the necessary properties for the treatment of this disease, and with the right dosage will not have a negative effect on the human body.
The process of treatment itself must begin withdiagnostic test. In this case, doctors prescribe this drug for a week for 15-20 mg per day, or two to four milligrams of "Dexamethasone", which should be taken within two to three days. If this test showed good results, then you can start a permanent treatment with Prednisolone. Most often, the daily dosage is about 10-15 mg per day. However, each case is absolutely individual, therefore the article contains only general recommendations. It depends on the age of the child, as well as on the level of hormones in the blood and on the degree of virilization.
With time, the dose gradually decreases. This is done at 2-2.5 mg per week. The final dosage can be determined only one or two months after the start of treatment. According to experts, daily dosage for children under one year of age should be selected only individually, focusing at the same time on clinical data more than on hormonal parameters. In fact, to choose the optimal dose for a baby is quite difficult. It is necessary to carry out constant testing in order to eliminate the risk of overdose. The minimum daily allowance is only 2.5 mg, while the maximum is 15 mg.
Please note that you need to take these medicationsconstantly. It is best to do it in the morning and in the afternoon, after eating. If you need to change the drug, you must take into account its physiological activity.
In some cases to treat thisCortisone is used. However, it is able to have a weaker and shorter-term effect on suppressing the production of adrenocorticotropic hormones. This drug is weaker than Prednisolone more than five times, so it requires a fairly high dosage. Infants such drugs are most often administered intramuscularly in the morning.
One of the most effective glucocorticoidsDexamethasone is considered. It is able to suppress the production of adrenocorticotropic hormones ten times more efficiently than does Prednisolone. But it is worth considering that it has almost no effect on salt metabolism, and very often promotes overdose. The daily norm of this substance is usually 0.25-0.5 mg.
All of the above drugs will provideon the body, a negative effect only in the case of selecting the wrong dosage. This suggests that taking the drug in more than the body requires will have a devastating effect on it. With excessive use of any of these drugs, the patient will experience hyperemia and rounding of the face, increased appetite, and sometimes even a halt in growth and development. However, all the effects of an overdose very quickly disappear if it is slightly reduced, or go to a weaker medication.
Method of surgical treatment
Usually congenital dysfunction of the adrenal cortex is inherited by autosomal recessive type. It does not matter what form this disease has.
One of the stages of proper treatment ingirls is a plastic surgery. Most often, surgery is performed to form the correct form of the labia minora, resect the clitoris and dissect the urogenital sinus. Carrying out such an operation is mandatory, as it helps to restore all the correct physiological functions of the girl's body, and also has a socio-psychological significance. Thus, the kid does not feel his inferiority, so he can be given to a kindergarten or sports section. However, please note that the operation should be performed at least one year after the start of treatment with hormonal drugs.
It is very important to study all aspects of the disease, such as congenital dysfunction of the adrenal cortex. ICD 10 is an international classification of diseases in which this ailment has code E.25.0
Congenital adrenal cortex dysfunction and pregnancy
If the patient has a post-pubertal formthis disease, then there is a high probability of fetal development, miscarriages, miscarriages and medical abortions. Very often pregnant women complain of poor vitality and an absolute loss of appetite. The electrolyte balance is not excluded. Usually, with the twenty-eighth week of pregnancy, the condition of the patient is significantly improved. Be sure to note that even when carrying a baby, you must not allow the termination of taking hormonal medications. Do this for life.
The genera and the period after them are very largestress for the entire body, and for the adrenal cortex inclusive. Therefore, with the disease "congenital dysfunction of the adrenal cortex," the analysis on the state of health will need to be handed over constantly. A woman should monitor hormone levels.
Projections for the future
Viral form of congenital bark dysfunctionadrenal glands, and also any other form can give good predictions only under condition of the beginning of timely and correct treatment. Of course, it is very important to establish an absolutely correct diagnosis.
Often with the timely start of treatment, you canprevent violations in the structure of external female sex organs. It is very important to choose the right dosage. If this is done incorrectly, then the growth of the organism will stop, and the masculinization of the figure will occur in women.
Congenital adrenal cortex dysfunction is not a non-classical form of the disease, but if you ignore the process of treatment, a woman risks becoming childless.
However, with proper treatment, even women,suffering from a salt-losing form of the disease, are all likely to become pregnant. The main thing - do not run yourself, constantly take prescribed drugs, and lead a good lifestyle. And then you will not be afraid of any disease. Be healthy.