One of the serious pathologies of the adrenal glands is adrenogenital syndrome, in which the production of special hormones that are involved in the regulation of the body's activity is disrupted. As a result of this disease, the production of androgens, steroid sex hormones, increases, which leads to the virilization of the genital organs, underdevelopment of the mammary glands, masculinization, infertility and other pathologies. How the disease develops and what it is is described below.
Problem description
Adrogenital syndrome is a congenital pathology characterized by a disorder in the activity of the adrenal cortex, in which the production of enzymes responsible for the synthesis of steroids is disrupted. With this disease, a disorder of the sexual sphere occurs.
According to statistics, pathology is most often found in representatives of Jewish nationality (19%), in Eskimos the disease is diagnosed in one case out of two hundred and eighty-two, and in Caucasians - 1:14000.
Adrogenital syndrome type of inheritance is autosomal recessive. If both parents have this pathology, then the probability of having a child with a defect is 25%. When one parent is a carrier and the other has the disease, the risk of having a child with congenital anomalies increases to 75%. In the event that one of the parents does not have this pathology, the child will not show symptoms of the disease.
Congenital adrenogenital syndrome is characterized by impaired production of enzymes that are responsible for the synthesis of steroids. As a result, there is a decrease in the production of corticosteroids (cortisol and aldosterone) and a simultaneous increase in androgens due to an increase in the level of ACTH, a hormone that causes hyperplasia of the adrenal cortex as a compensatory mechanism to normalize the production of steroids. All this leads to the appearance of symptoms of the disease at an early age.
Thus, the adrenogenital syndrome, the pathogenesis of which is described above, is associated with gene mutations that lead to impaired cortisol production.
Often, the disease begins to manifest itself after severe stress, trauma, that is, conditions that provoke a strong tension of the adrenal cortex.
Forms of adrenogenital syndrome
In medicine, it is customary to distinguish the following forms of the disease depending on the symptoms, severity of the defect, as well as the time of manifestation of the first signs of pathology:
- The post-pubertal form is the most favorable,signs of the disease appear during puberty or at reproductive age. At the same time, the genitals have a natural structure, in women there may be an increase in the clitoris, in men - the penis. Usually, the pathology is discovered by chance during the examination of a patient for infertility.
- The viril form is less severe. With this disease in female infants, the abnormal development of the genital organs predominates, in boys their increase in size is observed. There are no symptoms indicating a dysfunction of the adrenal glands. As people age, the signs of pathology begin to manifest themselves more clearly as a result of exposure to androgens. In girls, there is hypertrophy of the clitoris, an increase in the labia majora. Boys have an enlarged penis, scrotum skin, pigmented areolas of the nipples.
- The s alt-losing form of adrenogenital syndrome is the most severe variant of the disease, which is detected already in the first year of a child's life. Children develop vomiting and diarrhea, convulsions. In girls, false hermaphroditism is diagnosed (the genitals are built according to the male type), in boys - an increase in the penis. Without therapy, death occurs.
- Acquired pathology is diagnosed in 5% of cases.
There are other forms of pathology that are extremely rare: lipid, hyperthermic and hypertensive adrenogenital syndrome in children.
Causes of disease development
As mentioned above, the cause of the diseasegene mutations appear, leading to the failure of enzymes that are involved in the production of steroids. Usually this is due to the pathology of the gene that is responsible for the formation of the hormone cortisol (95% of cases). In other cases, there is a breakdown of other enzymes involved in steroidogenesis.
In most cases, the symptoms of pathology begin to appear after serious illnesses, injuries and intoxications, exposure to radiation, stressful situations and emotional stress, prolonged physical exertion, and so on.
Acquired disease can appear as a result of androsteroma - a benign tumor that can easily transform into a malignant one. Neoplasms are formed from adenocytes of the adrenal cortex, which leads to the synthesis of a large amount of androgens. This pathology can appear at any age.
Symptoms and signs of illness
Virile and s alt-losing forms of the disease are formed in the prenatal period of development and appear after the birth of the child. Their main symptom is virilization of the external genitalia. In girls, the clitoris becomes large, it looks like a male penis, the labia is also enlarged. In boys, the penis also enlarges, pigmentation of the scrotum occurs.
The disease can be recognized by the following signs:
- predominance of male traits;
- heavy pigmentation of the genitals;
- early hair growth in the pubic area andarmpits;
- skin rashes.
Together with this, severe somatic disorders occur, which in some cases lead to death. In this case, adrenogenital syndrome symptoms are as follows:
- severe diarrhea and vomiting leading to dehydration;
- convulsions.
Children with this pathology have adrenal insufficiency. Adrenogenital syndrome in newborns is manifested by such signs as vomiting, acidosis, adynamia, sluggish sucking, and hyperpigmentation.
Signs of illness when growing up
As the child grows older, the symptoms of the disease intensify. In children, disproportion in the size of body parts begins to form. Girls often have small stature, broad shoulders and a narrow pelvis. Before the age of seven, puberty begins, which is accompanied by the appearance of secondary male characteristics.
With the post-pubertal form of the disease, the symptoms are less pronounced. Typically, such people at an early age have the appearance of hair in the pubic area, nipples and armpits, as well as above the upper lip and along the white line of the abdomen. All this is accompanied by the development of acne. It is not uncommon for a child to develop excessive facial hair growth around the mustache, beard, pubis, chest, back, and extremities between the ages of two and five.
According to statistics, the disease is often accompanied by a decrease in blood pressure, the development of hypotension, headaches, and increased skin pigmentation. Maybethe development of collapse due to a violation of water-metabolic functions in the body.
In some cases, there is an increase in blood pressure, which is caused by a large amount of mineralocorticoids in the blood of a person.
Consequences
As a rule, adrenogenital syndrome leads to the development of infertility. At the same time, the earlier the symptoms of pathology appeared, the less likely women are to become pregnant. Some forms of the disease lead to spontaneous miscarriages in early pregnancy.
Severe complication
The most severe complication of the disease is acute adrenal insufficiency, which is accompanied by blue and cold extremities, hypothermia, nausea, vomiting and diarrhea. At the same time, adrenogenital syndrome in boys and girls often leads to dehydration, dry skin, sharpening of facial features, retraction of the fontanel, palpitations and a decrease in blood pressure. This condition poses a threat to life, so it is important to provide medical assistance in a timely manner.
Diagnostic measures
Diagnosis of adrenogenital syndrome involves the use of several techniques:
- Ultrasound and CT, the results of which show that the adrenal glands are enlarged in size, and the uterus in females lags behind in development.
- Laboratory analysis of blood and urine, which shows an increase in the concentration of testosterone, DAE, FSH and LH, renin.
- An ACTH test showing a decrease in cortisol concentration.
- Research of blood serum for the content of androstenedione.
- Basal temperature measurement.
Differential Diagnosis
The doctor differentiates adrenogenital syndrome with diseases such as polycystic ovaries, androblastoma, androsteroma of the adrenal glands. In this case, a hormonal study of urine and blood is performed to determine the concentration of hormones. In severe cases, consultation with an endocrinologist, urologist and geneticist is required.
Therapy
Adrenogenital syndrome treatment involves hormone replacement therapy, which is aimed at filling the lack of steroids. Hormone treatment is not used in the absence of skin rashes, a normal menstrual cycle, and also in the absence of pregnancy planning in the future. In other cases, therapy will depend on the manifestation of symptoms, the form of the disease and the degree of its manifestation. Usually, other medications are prescribed along with the use of hormones.
If a woman plans to have a baby, she must take glucocorticosteroids until the pregnancy occurs. Therapy can be supplemented with drugs that stimulate ovulation. To reduce the risk of miscarriage, hormones should be taken until the thirteenth week of pregnancy.
A doctor may prescribe oral contraceptives if a woman is not planning a pregnancy, but complains of menstrual irregularities and skin rashes. Treatment in this case lasts up to six months, after which hormone replacement therapy is recommended.
Surgical treatment
In severe false hermaphroditism, hormones are prescribed, and surgery is performed to correct the external genital organs. Sometimes the help of a psychotherapist may be needed. This usually happens when the congenital disease was not diagnosed at an early age, and the girl was brought up in the family as a boy. In some cases, doctors remove the uterus and its appendages in order to preserve the civilian male sex, but this decision must be made by the patient.
Surgical intervention is aimed at resection of the clitoris, dissection of the sinus and formation of the entrance to the vagina. In the event of a secondary infection, the dosage of medications is increased.
Thus, the tactics of treating different forms of the disease depends on the age of the patient, the nature of the disorders, the time of diagnosis of the pathology. Doctors recommend starting therapy as early as possible to reduce the risk of complications.
Forecast
The prognosis of the disease depends on the timely diagnosis, the quality of the treatment, plastic surgery on the external genitalia. Often, patients have short stature and cosmetic defects, which contributes to the disruption of their adaptation in society. With effective treatment, women acquire the ability to carry a child normally. Hormone replacement therapy usually contributes to the rapid development of the mammary glands, the normalization of the menstrual cycle.
In the presence of a s alt-losing formdiseases, patients often die early in life from the development of pneumonia or pylorospasm. According to statistics, the early manifestation of pathology leads to premature puberty.
Prevention
Preventive measures are carried out when planning pregnancy. Be sure to consult a geneticist if there were cases of such a disease in the family. It is recommended that both partners undergo ACTH to determine the carriage of the pathology. It is also necessary to conduct a study of the level of steroid concentration on the fifth day after childbirth in order to be able to start therapy for the pathology in a timely manner.
