Diagnosis of congenital adrenal hyperplasia


The adrenal glands are two distinct, asymmetrical endocrine glands that consist of a cortex and medulla. They are located above the kidneys and perform the function of regulating metabolic processes in the body.

Adrenal hyperplasia is a general name for a group of diseases that cause increased production of one or more hormones produced in these glands:

  • cortisol;
  • aldosterone;
  • androgen;
  • adrenalin;
  • norepinephrine;
  • some other hormones from the glucocorticoid series.

General information

Hyperplasia (or pathological enlargement of cells in an organ) occurs in the adrenal cortex. In this case, the adrenal glands do not change their shape, but their volume becomes much larger. The adrenal glands themselves are two endocrine glands. In normal condition, the adrenal glands in an adult have a mass of about 15 grams. Created to produce substances (namely hormones) that the human body needs for development and life:

  • metabolic hormone - glucocorticoid:
  • stress hormone - adrenaline;
  • sex hormone - estrogen, androgen;
  • hormone of water-salt metabolism - mineralocorticoid.

With the disease adrenal hyperplasia, the functions of all organs are seriously affected due to non-production or overproduction of these hormones. Externally, the disease manifests itself differently, depending on what stage of progression it is at. It should be noted that the disease is quite rare, predominantly hereditary. But it can also occur in people who often experience stressful conditions.

Adrenal hyperplasia - causes, symptoms and methods of prevention

The adrenal glands play a very important role in the functioning of the entire body.
They produce important hormones responsible for metabolic processes. With any disruption in the functioning of the adrenal glands, the entire body suffers, and the development of all kinds of diseases is observed. Adrenal hyperplasia is the growth of cells, and with this the concentration of hormone production increases. This condition causes disturbances in well-being and disruption in the functioning of the entire body. And the longer you delay the moment of contacting doctors, the worse the condition will be and the more difficult the therapy. It is very important to know how to determine the development of this disease and eliminate it in a timely manner, since this can lead to dysfunction of the endocrine glands, which is very difficult to treat.

Adrenal hyperplasia provokes an increase in the production of such important hormones as:

All of them are invaluable in the body’s water balance, metabolic functions, reproductive functions and psycho-emotional health.

Important! For the most part, hypertension is diagnosed in children, and in adults it is much less common. This disease is mainly transmitted genetically, therefore congenital and acquired hypertension are distinguished.

Causes of the disease

The causes of the disease are:

  • genetics (this is the main reason, if relatives suffered from such an illness, be sure to periodically undergo tests and take preventive measures);
  • congenital hyperplasia (occurs if during pregnancy a woman suffered from this disease or experienced severe stress, severe toxicosis, took medications, or had low hydrocortisone in the blood);
  • living in constant stress (nervous overload, instability of emotions, psychological discomfort for a long time can lead to illness);
  • consequence of other diseases.

Technically, hyperplasia leads to the fact that there is a huge amount of hormones of different types, since the adrenal glands begin to work super actively, and this affects the functionality of the entire body. As a result, these hormones enter the blood, and the cortical layer of the adrenal glands themselves becomes greatly thickened. Depending on which hormones are produced in greater quantities, the disease is divided into three types: virile, salt-wasting and hypertensive.

Forms

Adrenal hyperplasia is divided into:

The virile subtype is associated with the secretory activity of androgens, which results in an increase in the external genitalia, as well as excessive and early appearance of hair, acne, and rapid muscle development. The hypertensive form manifests itself with increased action of androgens and mineralocorticoids, which negatively affects the vessels of the fundus, kidneys and causes hypertension syndrome. Salt-wasting hyperplasia is caused by increased production of androgens in the absence of other adrenal hormones. This type of pathology provokes hypoglycemia and hyperkalemia, which threatens dehydration, weight loss and vomiting.

Main symptoms

Practice shows that the disease, for unknown reasons, occurs much more often in women than in men. In both sexes, the disease is easier to identify in childhood, since parents can notice early formation and hair growth of the child’s genital organs that is inappropriate for age, and severe acne. In adults, it is more difficult to “see” hyperplasia. There are frequent cases of asymptomatic disease. The most pronounced signs of the disease that you should pay attention to include:

  • psychosis, unstable nervous state, severe irritability;
  • "jumps" in pressure;
  • memory problems, thinking is blurred and unclear;
  • excessive constant thirst and frequent urination at night;
  • diabetes mellitus in the early stages;
  • obesity and, as a result, the appearance of stretch marks on the body;
  • decreased immunity and frequent colds;
  • weak muscles, development of atrophy;
  • the appearance of bone fragility;
  • problems with food processing.

Symptoms

Since in most cases adrenal hyperplasia is associated with defects in the 21-hydroxylase molecule, to normalize the functioning of the cortex, the pituitary gland begins to produce adrenocorticotropic hormone above normal. As a result, there is an excess of male sex hormones in the body. Already in childhood, the following developmental anomalies may appear:

  • too early hair growth of the genitals and armpits;
  • pronounced acne that cannot be treated cosmetically;
  • the appearance of bald patches at the temples;
  • absence of menstruation in girls or late onset of menstruation (after 15 years);
  • formation of a female figure according to the male principle (broad shoulders, lack of breasts, growth of excess facial hair).

You can read about the production of hormones by the adrenal glands here

As you get older, it becomes more difficult to recognize the disease without specialized diagnostics, since the symptoms of the pathology may vary depending on the types of adrenal gland pathologies. Common signs that should lead you to believe that problems are beginning are the following:

  • Mental instability. It is characterized by causeless irritability, frequent mood swings, prolonged depression, and sudden outbursts of excitement.
  • The appearance of stretch marks on the skin. The exception is sudden weight loss due to diet, pregnancy.
  • Malfunctions of the gastrointestinal tract.
  • The development of osteoporosis caused by metabolic disorders and poor absorption of calcium in the body.
  • Blood pressure disorders, expressed in jumps from low to high.
  • Decreased immunity even after taking immunomodulatory drugs.
  • Obesity. As a rule, the main locations of excess fat are observed in the abdomen, neck, chin and cheeks.
  • Muscle atrophy in the limbs.
  • The appearance of primary signs of diabetes mellitus.
  • Feeling constantly thirsty due to a violation of the water-alkaline balance.
  • Frequent urge to urinate at night without signs of cystitis.
  • Loss of clarity of thinking and memory lapses.

Symptoms of Adrenal Hyperplasia

Nodular hyperplasia

May progress as one or more nodules. Lobular nodes expand up to 4 cm. Statistics say that more than 40% of people diagnosed with hyperplasia develop this form of the disease. Nodular hyperplasia of the left adrenal gland, hyperplasia of the right adrenal gland, or bilateral hyperplasia may develop. In other words, two adrenal glands may be stretched in size at once, or one organ may be enlarged. An enlarged adrenal gland should be examined immediately. Experts note that this kind of disease is hereditary and is diagnosed at an older age. The older the patient becomes, the more pronounced the disease is. The main signs of nodular hyperplasia include:

  • muscle weakness, cramps;
  • headaches and black spots before the eyes;
  • Often patients are overweight;
  • impaired renal activity is observed;
  • intractable caries;
  • pronounced skin pigmentation;
  • psychical deviations;
  • rash and mini-tumors on the skin;
  • relapse of diabetes mellitus;
  • active growth of body hair.

Types of disease

The disease can have a different nature and character, and therefore the course of the disease, as well as its symptoms, can differ significantly.

There are several types of disease:

  1. Nodular hyperplasia is the appearance in the tissues of an organ of small formations that provoke a disruption in the functioning of the organ. Nodular adrenal hyperplasia affects the functioning of the kidneys, manifests itself in the form of increased blood pressure and affects the psycho-emotional state.
  2. Diffuse hyperplasia is manifested by the fact that the shape of the organ does not change, but it increases significantly in size. In this case, triangular echogenic compactions are formed in the organ, which are surrounded by adipose tissue.
  3. Nodular hyperplasia provokes an increase in the production of cortisol, which affects the functioning of the cardiovascular system. There is also an increase in body weight, diabetes mellitus, dry skin, deformation of bone tissue, etc.
  4. Micronodular hyperplasia of the adrenal glands provokes increased production of adrenaline and cortisone, which seriously affects the functioning of the reproductive system and the functioning of the cardiovascular system, and can even lead to prostate adenoma in men.
  5. Hyperplasia of the pedicle of the left or right adrenal gland is a serious deformation of the organ, because the supply of the body with many hormones is disrupted, which is manifested by quite large-scale lesions of the body. Hyperplasia of the medial peduncle can gradually radically change the shape of the organ.
  6. Hyperplasia of the organ's cortex leads to a disruption in the production of cortisone, which leads to acne, early sexual characteristics in children, the manifestation of secondary sexual characteristics in females, and the formation of age spots.
  7. Adrenal dysplasia is a deformation of the shape and size of the organ, therefore the production of all hormones is disrupted.

In addition, hypertensive hyperplasia, viril and saltelar hyperplasia are distinguished. And according to the location, hyperplasia of the right or left adrenal gland, as well as homogeneous segmental hyperplasia, can be diagnosed. Depending on the size of the lesion, a unilateral or bilateral form of the disease is distinguished. And the more the organ is affected, the higher the likelihood of developing pathology. Congenital hyperplasia of the adrenal cortex or acquired makes it possible to determine the cause of the disorder.

Important! During diagnosis, it is very important to establish the type and type of disease in order to select effective therapy. Treatment of the adrenal glands requires great attention and sensitive monitoring by doctors so that the patient’s condition improves under the attention of specialists.

Diffuse hyperplasia

Diffuse hyperplasia is characterized by the preservation of kidney shapes, proportionally enlarged. Often this type of disease is mixed with nodular hyperplasia. Diffuse disease of the left adrenal gland can only be determined by MRI. Ultrasound is not prescribed for this type of disease, since such diagnostics do not provide accurate information. The clinical picture of the disease is often without pronounced symptoms. In order to be completely cured, an individual lifelong course of medications is prescribed, consisting of analogues of sex hormones. Women, even with constant treatment, can become pregnant and bear a healthy baby. The main symptoms of the disease are:

  • cases of panic attacks;
  • dystrophy or obesity;
  • in women - abnormal bleeding, infertility;
  • in men - reduction in testicle size;
  • constant desire to drink;
  • heartache;
  • chronic fatigue and lethargy;
  • sharp spasms in the muscles.

Classification according to morphological characteristics

types of adrenal hyperplasia

The forms of pathology are varied and depend on where the cells grow excessively. There is a division according to morphological indicators. Hereditary adrenal hyperplasia in adults can appear only with age. In addition, the growth of cancerous tumors and prolonged overdose of corticoids lead to the disease. Every year, conditions accompanied by enlarged adrenal glands become more and more difficult to tolerate. In older patients, diffuse nodular lesions predominantly develop, and the medial peduncle thickens.

In most clinical cases, organ damage is diagnosed on the left or on both sides simultaneously. Unilateral proliferation has less pronounced symptoms. Hyperplasia of the right adrenal gland is not so common; it usually occurs during embryonic development. Most often this is nodular hyperplasia, which is characterized by excessive production of cortisol and male genital organs.

It often affects females. In the case of a diffuse disorder, the boundaries of the glands do not change, while the local type of lesion is represented by one or several nodules. It happens that this disorder is discovered unexpectedly, when performing an ultrasound examination of organs for completely different reasons.

Diffuse

adenoma in the adrenal gland

Diffuse adrenal hyperplasia does not change the outline of the patient’s glands, but leads to changes in the structure of the tissue. The size sometimes remains the same, but can grow proportionally. This pathology affects both adrenal glands in most cases. It is almost undetectable by ultrasound. Almost a third of cases are accompanied by the appearance of round, uniform compactions.

In this case, we are talking about the mixed diffuse-nodular nature of the disease. Magnetic resonance imaging with the introduction of a contrast agent helps to detect this problem on the left. Symptoms in many cases are vague. The characteristic manifestations of the disease are as follows:

  • panic attacks happen
  • there is excess or deficiency of body weight,
  • women cannot get pregnant, their periods disappear, bleeding may come from the uterus,
  • men have reduced testicles, problems with potency, become infertile,
  • tormented by incessant thirst,
  • cardiac dysfunctions, the middle layer of the heart muscle and blood vessels are affected,
  • asthenic condition,
  • muscle cramps occur
  • abnormalities in the fundus,
  • unstable blood pressure, headache attacks,
  • the volume of circulating blood increases.

Nodular hyperplasia

Nodular (or informally called nodular focal) hyperplasia occurs when liver cells (hepatocytes) greatly increase in size, resulting in vascular pathology and abnormalities. Experts are still debating why this disease occurs; the true cause has not been identified. There is only an assumption that this is due to abnormalities in the vascular system or to improper use of hormonal drugs. Over the course of years, nodular hyperplasia may be invisible to the patient, and only with progressive development does pain appear in the kidney area. Diagnosis can be made using ultrasound, MRI or computed tomography. Liver biopsy is a mandatory test if nodular focal hyperplasia is suspected. A higher percentage of detection of the disease in children and adolescents than in adults. If the disease is detected in the early stages, the chance of full recovery is high. The clinical picture looks like this:

  • muscle atrophy in the shoulders and legs;
  • strange, uneven weight gain (fatness in the chest, neck, abdomen, and face);
  • a state of superpositivity or the opposite state of lethargy and drowsiness;
  • abnormal complexion (marbled, pigmented, purple face);
  • the patient suffers from diabetes;
  • in women, hair covers the body according to the male type;
  • severe bone pain;
  • problems with heart rhythm.

Diagnosis of left and right

Nodular hyperplasia is not always diagnosed during the patient’s lifetime. This is due to the fact that its clinical manifestations do not always correspond to the classical ones, and the presence of only skin symptoms or periodic increases in blood pressure, diabetes or osteoporosis, tumors of one of the endocrine organs leads the doctor away from assuming the true nature of these disorders. Therefore, the pathology is considered rare, but most likely it is more common, but poorly studied.

MRI of the adrenal glands may reveal small dark nodules about 1 cm in size against the background of atrophy of surrounding cells. As a rule, the MRI picture of micronodular hyperplasia is unclear. With large nodular lesions, large accumulations of nodes containing fat are easily visible. Their sizes range from 1 to 5 cm, located in one adrenal gland or in two, but in different zones of the cortex. The total weight of hyperplastic glands is 60-200 g.

Watch the video about diagnosing the adrenal glands:

To distinguish between ACTH-dependent Itsenko-Cushing syndrome, the following tests must be performed:

  • blood test for ACTH and cortisol;
  • cortisol in urine;
  • dexamethasone test;
  • cortisol in saliva (after 10 pm).

It is extremely important to look for extra-adrenal changes. Patients are prescribed x-rays of bones, densitometry, ultrasound of the heart, abdominal cavity, thyroid gland, ECG, MRI of the pituitary gland, blood tests for sex hormones, somatotropin, gonadotropins. Consultations with a dermatologist and gynecologist are indicated.


Blood test for ACTH and cortisol

Hyperplasia in women and men

Adrenal hypertrophy in adult women is accompanied by feminization. Women are prescribed the hormone cortisone, which eliminates the obvious symptoms of the disease, namely, fat deposits are distributed in the correct shape, body contours become pretty, the face changes to a more feminine one, mammary glands enlarge, acne disappears. Older women must constantly take medications and monitor the doses of drugs so that this condition is constantly maintained. In men, sterility is eliminated during treatment.

Symptoms of the disease

Even though adrenal hyperplasia in adults is not detected very often, the spread of this disease is increasing every year, and therefore it is very important to understand what signs the body shows this disorder. Since the effect of hormones is very extensive, disturbances in the body do not manifest themselves locally, but rather widely.

Symptoms of hyperplasia are described by a group of disorders:

  1. Myasthenia.
  2. Psycho-emotional disorders.
  3. Anxiety and nervous breakdowns.
  4. Memory impairment.
  5. Increased nervousness.
  6. Osteoporosis.
  7. Digestive disorders.
  8. Women have irregular menstrual cycles.
  9. Disturbance in metabolic processes.
  10. Obesity.
  11. Diabetes.
  12. Increased urination and constant desire to drink.
  13. Kidney disorders.
  14. Men have problems with potency.

Depending on the degree of damage and the location of the affected tissues, various forms of manifestation are distinguished. But it is worth noting that women are more susceptible, and hormonal imbalance is especially dangerous for them. Therefore, we should be more attentive to our health.

Congenital hyperplasia in children

Adrenal cortical hyperplasia in children is congenital and occurs due to gene mutations. Such pathologies disrupt the synthesis of the hormone cortisol. The amount of this hormone decreases and bilateral hyperplasia occurs. In modern medicine, congenital adrenal hyperplasia is detected in the early stages in children. This allows therapy to begin at an early age, which leads to recovery and does not interfere with patients’ ability to lead a normal life. The disease in children is recognized by the following symptoms:

  • hormonal imbalance, masculine features are “readable” in the face and figure;
  • a large number of pimples and blackheads on the face;
  • It takes a long time for teenage girls to start menstruation;
  • obvious pigmentation of the external genitalia;
  • very early hair growth.

Causes

Adrenal dysfunction can be congenital or acquired. In the first case, the disease is usually inherited (a genetic malfunction in the body of one of the parents) or is formed under the influence of certain negative factors:

  • frequent stress during pregnancy;
  • taking antibiotics and other medications while pregnant;
  • alcoholism, smoking abuse.

In the second case, when adrenal hyperplasia occurs during life, the disease becomes more active against the background of the patient’s unstable emotional background and constant nervous overstrain. Too much cortisol production begins, which leads to overload of the adrenal glands and, as a result, the development of various pathologies.

According to ICD-10, the disease is assigned code E27 “Other adrenal disorders.”

Adrenal hyperplasia

Pregnancy

In pregnant women, the disease is detected by urine and blood tests, which show the amount of enzymes and hormones. A biochemical blood test is also possible. If this is not enough, then ultrasound, CT MRI are prescribed. To identify the disease in the fetus, the doctor prescribes chorionic villus analysis, genetic and amniscopic studies in the first trimester. Take prevention and examinations seriously, hyperplasia requires urgent treatment, it threatens:

  • termination of pregnancy;
  • complications during childbirth;
  • lethal outcome.

During treatment, the expectant mother and the development of the fetus are not in danger. Treatment is based on hormonal therapy, selected by a specialist depending on the type of disease. If hyperplasia is detected in the fetus, treatment is prescribed after birth. For prevention, women who are preparing to become pregnant are advised to undergo genetic testing, take a chorionic villus test, and consult a doctor.

Reasons for development

The disease is genetically determined; there are familial forms of the disease, but cases of occurrence in a child with healthy parents have also been described. In this case, it is assumed that the pregnant woman is exposed to factors that cause genetic mutations:

  • viral infections;
  • irradiation;
  • smoking, drinking alcohol;
  • treatment with medications that have a toxic effect on the fetus;
  • harmful production conditions;
  • environmental pollution.

The mechanism of development is not fully understood; an autoimmune variant of adrenal damage is possible. The immune system recognizes its cells as foreign and begins to produce antibodies. The resulting antigen-antibody complexes stimulate cells to produce hormones. This causes excessive cellular function and overgrowth of glandular tissue.


Proliferation of glandular tissue of the adrenal gland

One of the ways to activate the adrenal glands is the abnormal formation in them of receptors for gastrointestinal peptides and some other hormones. They are produced in response to food entering the stomach and intestines, so food causes the release of cortisol into the blood.

Diagnostics

The problem of hyperplasia of the adrenal cortex (belongs to the endocrine system) is identified by an endocrinologist. Diagnosis involves a number of examinations. To correctly diagnose the disease, a specialist prescribes several tests:

  • RIA (radioimmunological analysis detects the hormone “cortin” in the blood and urine);
  • biochemistry;
  • tomography;
  • MRI;
  • ELISA (enzyme immunoassay shows how much hormone is in the blood);
  • Ultrasound;
  • radionuclide scanning;
  • aspiration puncture.

Consequences of adrenal nodes

In the case of detection of adrenal nodules, as well as in the case of their detection in all other endocrine glands, the following situations should be excluded:

  • malignant (cancerous tumor) nature of the node,
  • abnormal secretion of hormones by the glandular tissue of the node.

Regarding the first question, the answer is given by computed tomography, which is sometimes supplemented by magnetic resonance imaging. The results of these studies should be analyzed by an endocrinologist in collaboration with a radiologist. Assessing the risk of a malignant process helps to decide on the possibility of further surgical treatment. As a rule, a biopsy of a tumor-like tumor of the adrenal glands is not performed (unlike changes in the thyroid gland) due to the discrepancy between the benefits of the results obtained in relation to the risk of complications and the morbidity of the procedure itself.

To determine whether the nodes are secreting abnormal amounts of hormones, the first step is to examine the patient in person. Data on symptoms and signs are collected, and then targeted studies are carried out to determine hormone levels. The following is a description of disorders that may be associated with the occurrence of a tumor in the adrenal glands.

Cushing's syndrome

Cushing's syndrome is caused by excessive production of glucocorticoid hormones by the adrenal cortex. It includes symptoms such as improper distribution of fat tissue (face, neck, upper torso), red skin stretch marks (striae), muscle atrophy of the limbs and buttocks, excessive bruising, hypertension, diabetes and many others. The diagnosis is made by determining the actual level of a hormone in the blood called cortisol: a test using a drug called dexamethasone is useful (after taking 1 mg of the drug at 20.00, the cortisol concentration the next day at 8.00 in a normal healthy body should be low).

Primary hyperaldosteronism syndrome (Conn's)

Excessive secretion of another hormone called aldosterone from the adrenal cortex is caused. The clinical picture consists of hypertension and low serum potassium concentration. Diagnosis is difficult, sometimes requiring examination in a hospital setting. Primary hyperaldosteronism can be detected in an outpatient setting, while the difficulty lies in determining the specific causes of such a condition and establishing possible indications for surgical intervention (it is not always advisable). A description of the procedure is beyond the scope of this article. it is not enough to detect elevated aldosterone levels to make a diagnosis of primary hyperaldosteronism syndrome .

Adrenal hyperandrogenism syndrome

The syndrome is characterized by excessive release of androgens (male hormones) in the adrenal glands. In women, this pathology manifests itself in the form of acne, sadness (excessive male pattern hair growth) and menstrual irregularities. In men, it is much more difficult to diagnose this syndrome in a timely and correct manner. Unfortunately, if such symptoms begin to appear due to the presence of nodes in the adrenal glands, they are often malignant. Confirmation of the diagnosis is based on the study of dehydroepiandrosterone sulfate (DHEA-S) and testosterone. In women, a slight increase in the above hormones may also indicate polycystic ovary syndrome (PCOS). If you have other symptoms that indicate PCOS, elevated levels of DHEA-S and testosterone will most likely be due to the presence of pathology in the ovaries.

Congenital adrenal hyperplasia

Synonyms: CAH, 21-hydroxylase deficiency.

In the case of adrenal hyperandrogenism, the cause of the disorder may be not only a tumor (cancer), but also congenital hyperplasia of the adrenal cortex . The disorder consists of genetically determined errors in the synthesis of steroid hormones. During research methods such as ultrasound/CT/MRI, as a rule, it is impossible to determine pathological nodes, although sometimes bilateral enlargement of the entire gland is noted. Diagnosis of the disease is carried out by determining the level of 17-hydroxyprogesterone (17-OH-progesterone, 17-OHP). This pathology can be treated with small doses of hydrocortisone or its stronger analogues. The therapy helps combat the symptoms of hyperandrogenism and improves the ability to become pregnant, which is a problem with this disorder.

Nodules of the adrenal medulla (nuclei)

In this case, a pheochromocytoma is suspected, that is, a node that produces catecholamines (adrenaline and norepinephrine). The disease manifests itself as arterial hypertension, usually paroxysmal. Diagnosis is based on urine tests for the presence of catecholamine derivatives (hormone breakdown products).

Treatment of adrenal hyperplasia

Treatment of the disease adrenal hypertrophy is, first of all, taking hormones. The doctor must build an algorithm for using drugs. Often, specialists prescribe glucocorticoid hormones. A surgical solution is also possible, when the adrenal glands are completely removed and the patient takes hormonal therapy for the rest of his life. Surgical intervention is often used to correct the genital organs in very young patients (up to 2 years). After the operation, you should definitely adhere to a healthy lifestyle, do not take sleeping pills or alcohol, do not be nervous, and monitor physical activity.

Dangerous complications and disease prevention

Dysfunction of the endocrine gland and adrenal glands leads to a lot of very serious pathologies without proper and timely treatment.

This pathology is dangerous due to the development of such ailments as:

  1. Diabetes.
  2. Crohn's disease.
  3. Itsenko-Cushing's disease.
  4. Obesity.
  5. Infertility.

Such diseases are very difficult to treat, and almost always bind the patient with a number of restrictions.

And in order to prevent the disease, you need to lead a correct lifestyle, make sure not to put a lot of stress on the body and try to ensure rest for the body. You should also be careful about the selection of hormonal medications so as not to provoke a sudden hormonal imbalance.

This condition is quite difficult to treat, so it is better to stop the disease in a timely manner. And in order to promptly determine the congenital form of the disease, it is necessary to carry out all perinatal manipulations recommended by the doctor to establish the exact state of the adrenal glands. This allows you to quickly identify the disease and prescribe the correct therapy.

The main thing is not to be afraid to see a doctor. And then problems with the adrenal glands can be solved through minimal medical intervention. Therefore, you should be attentive to your health and, if any problems occur, contact a specialist.

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Prevention

If close or distant relatives have had enlarged adrenal glands, this is a reason to contact an endocrinologist. The main prevention lies in regular examinations and testing of tests, this is testing of newborns. Especially future parents should make sure that they check their body before conception, undergo examination by a geneticist; during pregnancy, the expectant mother should be tested for infectious diseases, and also protect herself from exposure to radiation and toxic substances.

Treatment

If you do not know which doctor treats adrenal hyperplasia and adenoma, then an endocrinologist deals with these pathologies. First, a comprehensive diagnosis is required, which includes CT and MRI, x-rays, and aspiration puncture. Blood is taken for biochemical testing.

Treatment of adrenal hyperplasia involves taking hormones. Girls are additionally prescribed estrogens, boys - androgens to control the formation of secondary sexual characteristics. When there is a deficiency of salt in the body, mineralocorticoids are used. The diet should include no more than 2-3 g of salt per day. Pseudohermaphroditism may require surgery. It is done in the first year of the baby’s life.

To prevent CAH, you should, if possible, avoid stress, radiation, exposure to toxic substances, and carefully plan your pregnancy.

If one of your relatives had adrenal hyperplasia, it is recommended to go to geneticists in the first months of pregnancy. Based on chorionic villus biopsy, a diagnosis can be made already during this period. Later, to confirm it, it is necessary to analyze the anatomical fluid for hormone content. All this will allow you to give birth to a healthy child or take timely measures to treat it.

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