Congenital adrenal dysfunction is a wide variety of hereditary diseases that occur as a result of defects in protein transit junctions. In this article, we will talk about what these diseases are, as well as methods for diagnosing and treating them.
A few words about the disease itself
The adrenal glands secrete a special kind of hormones that are actively involved in the 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 glands of this group is usually associated with a decrease in the production of cortisol. 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 disease inthe modern world
Congenital adrenal dysfunction is a hereditary disease. Moreover, this pathology is observed with the same frequency in both females and males. There are several clinical varieties of each disease, and almost every one of them is incompatible with life. That is why babies with this disease very often die at birth.
As medical statistics show, congenital dysfunction of the adrenal cortex most often occurs as a result of the detection of defects in the twenty-first hydroxylase. Also, the prevalence of this disease depends on race. For example, if we take representatives of the white race, then this disease will be noticed in one baby out of 14 thousand. While among the Eskimos every 280th baby will be sick.
Fortunately, today the problem of combating these ailments is completely solvable, but only in the most developed countries of the world. If this pathology is detected even in infancy, he alth workers conduct special studies that help to identify a 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 risk
Most often, congenital adrenal dysfunction occurs if the disease was detected in at least one of the parents, or if the parents are direct carriers of the gene responsible for transitproteins that are needed for the production of adrenal hormones. If such a gene was found in both parents, then there is a twenty-five percent chance that the baby will have this pathology.
What causes dysfunction
It is very important to understand exactly how the mechanism of development of dysfunction of the adrenal cortex goes. It is worth considering that as a result of improper protein transfer, the amount of aldosterone and cortisol in the adrenal glands will decrease. And this is the reason for the increase in the production of adrenocorticotropic hormone by the pituitary gland. This hormone is responsible for regulating the proper functioning of the adrenal glands themselves.
If adrenocorticotropic hormones are produced in excessively large quantities, then this leads to such a phenomenon as hyperplasia. An increased release of male hormones will also be noticed. A high concentration of androgens leads to deformations of the genital organs, as well as excessive hair growth on the face and throughout the body.
Disease forms
In medical practice, there are three forms of this disease:
- Uncomplicated or viril form. This form usually occurs with a slight deficiency of the twenty-first hydroxylase protein.
- The s alt-wasting form of congenital adrenal dysfunction is characterized by a deeper deficiency of this enzyme.
- The hypertonic variety results from a severe deficiency of the enzyme 11b-hydrolactase.
Symptoms of disease
The first form is usually accompanied by symptoms such as a penis-shaped clitoris, large scrotal labia, or urogenital sinus in girls. In both male and female individuals, a very rapid development is noted not only of the physical plane, but also of the sexual one. At the same time, boys have an isosexual type of development, while girls have a heterosexual type.
S alt-wasting form of congenital adrenal dysfunction is commonly observed in children. In addition to the symptoms listed above, the first serious violations of the adrenal cortex itself are also added. At the same time, appetite, electrolyte metabolism significantly worsens, and body weight does not increase. In addition, very often hypotension develops and dehydration of the body occurs. If the signs could not be recognized even in the first stages of the disease, then there is a huge risk of death in the presence of collapse phenomena. If the right treatment was chosen from the very beginning, then with age such phenomena can be completely excluded.
Congenital dysfunction of the adrenal cortex in women leads to a change in the structure of the external genital organs. At the same time, the released huge amount of male hormones androgens does not affect the differentiation of the internal female genital organs. Usually the course of development of the ovaries and uterus is absolutely normal. The external genitalia have an irregular shape already at the birth of a girl. In medical practice, there were a lot of cases when, at the birth of a girl, she was assigned the masculine gender.
Due to the negative effects of androgens, patients begin to grow very quickly from birth. They develop secondary sexual characteristics very early. In addition, all patients have short stature and a rather disproportionate physique. The pelvis remains very narrow and the shoulders excessively wide. At the same time, in females, the mammary glands do not begin to grow, and menstruation does not appear. At the same time, the external genitalia are modified, hair appears on the entire body, and the voice becomes lower and lower.
Male patients develop according to the isosexual type. Already in infancy, you can notice the hypertrophy of the penis, and the testicles are usually small. In adolescence, patients often develop tumor-like formations on the testicles. Very often, men with this pathology suffer from infertility.
The hypertensive form of this disease is also characterized by all the symptoms listed above, but is also accompanied by high blood pressure. When conducting special examinations, doctors notice the following indicators: the presence of protein in the urine, the boundaries of the heart are expanded, and the vessels of the fundus are changed.
Non-classical form of the disease
The non-classical form of congenital adrenal dysfunction is considered the simplest and easiest form of this disease. In this case, 21-hydroxylase is produced in a volume slightly less than normal. In this case, usuallythe genitals of both men and women develop correctly, and the first signs of the disease can be noticeable only after adolescence. Most often, the non-classical form of congenital adrenal dysfunction is seen in women who are concerned about such problems:
- permanent irregularities in the cycle of menstruation;
- medium to severe acne;
- can't get pregnant;
- Some areas of the body become male-type hairline.
Most often the deviations are insignificant, so they do not have any effect on the function of childbearing. Women discover when trying to get pregnant the presence of the disease "congenital dysfunction of the adrenal cortex." The non-classical form, the treatment of which is carried out only in women, usually does not cause serious unrest in males. Therefore, treatment is not advisable.
Diagnosis of disease
It is very important in childhood to determine the presence of such a disease as congenital dysfunction of the adrenal cortex. Diagnosis allows you to determine the form of the disease, and helps to deal with further treatment.
All babies born with noticeable disorders in the structure of the external genital organs, doctors conduct a special diagnosis that allows you to determine the sex chromatin, as well as determine the karyotype. Most often, with the congenital form of this pathology in young patients, an excessively large amount of male hormone is observed in the blood. To determine its level, you need to conduct a screening test. Usually, such testing shows that the concentration of this hormone in the blood is exceeded several times.
As you know, congenital dysfunction of the adrenal cortex in children is accompanied by a 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 taken, and already from the pictures it is possible to determine the bone age of the patient. If pathologies are present, then usually the condition of all joints and bones by age is significantly ahead of the age of the patient himself.
If at birth the girls showed signs of hermaphroditism, then doctors perform an ultrasound of the female genital organs. In this case, their structure is usually no different from the norm.
Also, in the first year of life, doctors conduct differential diagnosis. It allows you to determine whether hermaphroditism is false or true. In this case, the diagnostic method is karyotyping. And, of course, the level of the male hormone androgen is necessarily determined.
In addition to the methods listed above, anamnestic data are also analyzed. The main and most important criterion can be called the level of 17-hydroxyprogesterone.
Congenital adrenal dysfunction in children can be detected as early as the fourth or fifth day after birth through a procedure such as neonatal screening. This analysis involves checking17-hydroxyprogesterone in blood taken from the heel. Such an analysis will help to find out about the presence of pathology in the first days of life. This will help to start treatment in a timely manner.
Treatment methods
Congenital dysfunction of the adrenal cortex, the symptoms of which are described above, due to its congenital nature, should be treated with constant replacement therapy with a drug such as Prednisolone, as well as all sorts of its analogues. The constant intake of glucocorticoids in the body has the most positive effect on it. On the one hand, these substances are able to eliminate adrenal insufficiency of congenital origin. On the other hand, preparations containing hormones are able to suppress the excessive secretion of adrenocorticotropic hormone. In addition, the feedback mechanism begins to regulate, which means that the level of hydro generation is reduced to the maximum.
If the disease has a s alt-losing form, that is, it is also characterized by a deficiency of mineralocorticoids, then saline solutions and deoxycorticosterone acetate are also added to the treatment. In addition, all girls also need surgery to remove the hypertrophied clitoris.
Method of conservative treatment
Congenital dysfunction of the adrenal cortex, the treatment of which can really cope with this pathology, must be started in childhood. This should be done immediately after the disease has been identified.
Most often, for the purpose of replacement therapy, doctors advise using the drug"Prednisolone". It has all the necessary properties for the treatment of this disease, and with the right dosage, it will not have a negative effect on the human body.
The process of treatment itself must begin with a diagnostic test. In this case, doctors prescribe this drug for a week at 15-20 mg per day, or two to four milligrams of Dexamethasone, which should be taken for two to three days. If this testing showed good results, then you can start permanent treatment with Prednisolone. Most often, the daily dosage is about 10-15 mg per day. However, each case is completely individual, so only general recommendations are given in the article. 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.
The dose is gradually reduced over time. This is done at 2-2.5 mg per week. The final dosage can be determined only one to two months after the start of treatment. According to experts, the daily dosage for children under the age of one year should be selected only individually, focusing on clinical data more than on hormonal indicators. In fact, choosing 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.
Know what to takethis drug is needed constantly. It is best to do this in the morning and afternoon, after eating. If you had a need to change the drug, then you must definitely take into account its physiological activity.
In some cases, Cortisone is used to treat this disease. However, it is able to have a weaker and shorter-term effect on the suppression of the production of adrenocorticotropic hormones. This drug is more than five times weaker than Prednisolone, therefore it requires a fairly large dosage. For infants, these drugs are most often administered intramuscularly in the morning.
One of the most effective glucocorticoids is "Dexamethasone". It is able to suppress the production of adrenocorticotropic hormones ten times more effectively than Prednisolone does. But it should be borne in mind that it has practically no effect on s alt metabolism, and very often contributes to an overdose. The daily norm of this substance is usually 0.25-0.5 mg.
All of the above drugs will have a negative effect on the body only if the wrong dosage is selected. This suggests that taking the drug in a larger amount than the body requires will have a detrimental effect on it. With excessive use of any of these drugs, the patient will experience flushing and rounding of the face, increased appetite, and sometimes suspension of growth and development. However, all the effects of an overdose will disappear very quickly if it is slightly reduced, or if you switch to a weaker medication.
Surgical methodtreatment
Usually, congenital adrenal dysfunction is inherited in an autosomal recessive manner. It does not matter at all what form the disease has.
One of the stages of proper treatment for girls is plastic surgery. Most often, surgical intervention is performed to form the correct shape of the labia minora, resection of the clitoris and opening the urogenital sinus. Carrying out such an operation is mandatory, since it helps to restore all the correct physiological functions of the girl's body, and also has a socio-psychological significance. Thus, the baby does not feel his inferiority, so he can be sent to a kindergarten or a sports section. However, please note that the operation should be performed at least one year after the start of hormonal treatment.
It is very important to study all aspects of a disease such as congenital adrenal dysfunction. ICD 10 is an international classification of diseases, in which this disease has the code E.25.0
Congenital adrenal dysfunction and pregnancy
If the patient has a post-pubertal form of this disease, then there is a high probability of non-development of the fetus, miscarriages, miscarriage and medical abortions. Very often, pregnant women complain of poor vitality and absolute loss of appetite. Electrolyte imbalances are not excluded. Usually, from the twenty-eighth week of pregnancy, the patient's condition improves significantly. Please note that even ifbearing a baby should not be allowed to stop taking hormonal drugs. You will have to do this for life.
The birth itself and the period after them is a very big stress for the whole organism, including for the adrenal cortex. Therefore, with the disease "congenital dysfunction of the adrenal cortex", an analysis of the state of he alth will need to be taken constantly. A woman should control her hormone levels.
Forecasts for the future
The viril form of congenital adrenal dysfunction, as well as any other form, can give good prognosis only if timely and correct treatment is started. Of course, it is very important to establish an absolutely correct diagnosis.
Often, with the timely start of treatment, it is possible to prevent violations in the structure of the external genital female organs. It is very important to choose the right dosage. If this is done incorrectly, then the growth of the body will stop, and women will have a masculinization of the figure.
Congenital dysfunction of the adrenal cortex, non-classical, is not such a dangerous form of the disease, however, if the treatment process is ignored, a woman risks becoming childless.
However, with the right treatment, even women suffering from the s alt-wasting form of the disease have every chance of becoming pregnant. The main thing is not to let yourself go, constantly take the drugs prescribed by the doctor, and lead a good lifestyle. And then you will not be afraid of any diseases. Stay he althy.
