One of the serious pathologies of the adrenal gland is adrenogenital syndrome, in which the production of special hormones is disrupted, which are involved in the regulation of the body. As a result of this disease, the production of androgens - steroid sex hormones is enhanced, which leads to virilization of the genitals, underdevelopment of the mammary glands, masculinization, infertility and other pathologies. How the disease develops and what it is is described below.
Problem Description
Adrenogenital syndrome is a congenital pathology characterized by a disorder of the adrenal cortex, which disrupts the production of enzymes responsible for the synthesis of steroids. With this disease, a genital disorder 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 persons of the Caucasian race - 1: 14000.
The type of inheritance adrenogenital syndrome is autosomal recessive. If both parents have this pathology, then the probability of having a child with a defect is 25%. When one of the parents acts as a carrier, and the second is sick with this disease, the risk of having a baby with congenital anomalies increases to 75%. In the case when one of the parents does not have this pathology, the symptoms of the disease in the child will not be manifested.
Congenital adrenogenital syndrome is characterized by impaired production of enzymes, which 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, which causes adrenal cortical hyperplasia as a compensatory mechanism for the normalization of steroid production. All this leads to the appearance of symptoms of the disease at an early age.
Thus, adrenogenital syndrome, the pathogenesis of which is described above, is associated with gene mutations, which lead to a disruption in the production of cortisol.
Often, the disease begins to manifest 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 symptomatology, severity of the defect, and also the time of manifestation of the first signs of pathology:
- The post-puberty form is the most favorable, signs of the disease appear during puberty or at reproductive age. In this case, the genitals have a natural structure, in women, an increase in the clitoris can be observed, in men - the penis. Usually, a pathology is detected by chance when examining a patient for infertility.
- The viril form is less severe. With this disease, the development of the genital organs predominates in female infants, in boys they increase in size. Symptoms indicating impaired adrenal function are absent. As people age, signs of pathology begin to manifest more clearly as a result of exposure to androgens. In girls, clitoral hypertrophy, an increase in the labia majora are observed. In boys, the penis is enlarged, the skin of the scrotum, the areola of the nipples are pigmented.
- The salt-forming form of adrenogenital syndrome is the most difficult 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 (genitals are built according to the male type), in boys - an increase in the genital area. Without therapy, death occurs.
- The acquired form of 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 the disease
As mentioned above, the cause of the disease is gene mutations, leading to the failure of enzymes that take part in the production of steroids. This is usually associated with the pathology of the gene, which is responsible for the formation of the hormone cortisol (95% of cases). In other cases, there is a disorder of other enzymes involved in steroidogenesis.
In most cases, the symptoms of the pathology begin to appear after serious illnesses, injuries and intoxications, exposure to radiation, stressful situations and emotional stress, prolonged physical exertion and so on.
An acquired disease may appear due to androsteroma, a benign tumor that can easily transform into a malignant one. Neoplasms are formed from adenocytes of the adrenal cortex, this leads to the synthesis of a large number of androgens. This pathology can appear at any age.
Symptoms and signs of the disease
Virile and salt-forming forms of the disease are formed in the prenatal period of development and appear after the birth of a child. Their main symptom is virilization of the external genital organs. In girls, the clitoris becomes large, it looks like a male penis, the labia is also enlarged. In boys, the penis also increases, pigmentation of the scrotum occurs.
The disease can be recognized by the following signs:
- the predominance of male traits;
- strong genital pigmentation;
- early hair growth in the pubic area and armpits;
- skin rashes.
Along with this, severe somatic disorders occur, which in some cases lead to death. In this case, adrenogenital syndrome symptoms have the following:
- severe diarrhea and vomiting, which lead to dehydration;
- cramps.
In children with this pathology, adrenal insufficiency is observed. Adrenogenital syndrome in newborns is manifested by such signs as vomiting, acidosis, adynamia, sluggish sucking, as well as hyperpigmentation.
Signs of illness when growing up
As a child grows up, the symptoms of the disease increase. In children, a disproportionality in the size of body parts begins to form. Girls are often short, with broad shoulders and a narrow pelvis. Up to seven years of age, puberty begins, which is accompanied by the appearance of secondary male symptoms.
With the post-puberty form of the disease, the symptoms are less pronounced. Usually, such people at an early age show 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. This is all accompanied by the development of acne. Often, between the ages of two and five years, a child develops excessive growth of facial hair in the area of a mustache and beard, pubis, chest, back and limbs.
According to statistics, the disease is often accompanied by a decrease in blood pressure, the development of hypotension, headaches, increased pigmentation of the skin. Perhaps the development of collapse due to a violation of water-exchange functions in the body.
In some cases, there is an increase in blood pressure, which is caused by a large number of mineralocorticoids in human blood.
Effects
As a rule, adrenogenital syndrome leads to the development of infertility. In this case, the earlier the symptoms of pathology appeared, the less likely they are to become pregnant in women. Some forms of the disease lead to spontaneous miscarriages in early pregnancy.
Severe complication
The most serious complication of the disease is acute adrenal insufficiency, which is accompanied by blueness and cooling of the 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, sinking of the fontanel, palpitations, and lowering blood pressure. This condition is a danger to life, therefore it is important to provide medical care in a timely manner.
Diagnostic measures
Diagnosis of adrenogenital syndrome involves the use of several methods:
- Ultrasound and CT, according to the results of which it becomes clear that the adrenal glands are enlarged, and the female uterus is lagging behind in development.
- Laboratory analysis of blood and urine, where you can see an increase in the concentration of testosterone, DAE, FSH and LH, renin.
- ACTH test, where the decrease in the concentration of cortisol.
- A study of blood serum on the content of androstenedione.
- Basal temperature measurement.
Differential diagnosis
The doctor differentiates the adrenogenital syndrome with diseases such as polycystic ovary, androblastoma, androsteroma of the adrenal gland. In this case, a hormonal test of urine and blood is performed to determine the concentration of hormones. In severe cases, consultation with an endocrinologist, urologist and genetics is required.
Therapy
Adrenogenital syndrome treatment involves in the form of hormone replacement therapy, which is aimed at filling the shortage of steroids. Hormone treatment is not used in the absence of skin rashes, a normal menstrual cycle, and also in the absence of future pregnancy planning. 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 has plans to have a baby, she should take glucocorticosteroids until the time of pregnancy. Therapy can be supplemented with drugs that stimulate ovulation. To reduce the risk of miscarriage, hormones must be taken before the thirteenth week of pregnancy.
The doctor may prescribe oral contraceptives if the woman does not plan a pregnancy, but complains of a menstrual cycle and skin rashes. Treatment in this case lasts up to six months, after which hormone replacement therapy is recommended.
Surgery
With severe false hermaphroditism, hormones are prescribed and surgery is performed to correct the external genitalia. Sometimes the help of a psychotherapist may be required. Usually this happens when a 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 civil male gender, but the patient himself must make this decision.
Surgical intervention is aimed at resection of the clitoris, dissection of the sinus and the formation of the entrance to the vagina. In the case of the development of a secondary infection, the dosage of medications is increased.
Thus, the tactics of treating various forms of the disease depends on the age of the patient, the nature of the disorder, the time of diagnosing 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 violation 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 salt-forming form of the disease, patients often die in the early stages of life from the development of pneumonia or pylorospasm. According to statistics, an early manifestation of pathology leads to premature puberty.
Prevention
Preventive measures are taken when planning pregnancy. A genetics consultation is required if there are cases of such a disease in the family. It is recommended that both partners conduct 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 of the pathology in a timely manner.