Congenital giperplaziya of adrenal glands – increase in volume of adrenal glands owing to defect of enzymes of the steroidogenez in a cortical zone leading to the compensatory growth of body for elimination of hormonal insufficiency. It is shown by giperandrogeniya signs at children of both floors owing to what genitalia develop incorrectly. Violation of water-salt exchange and regulation of arterial pressure with tendency to its decrease is also characteristic. The congenital giperplaziya of adrenal glands is diagnosed on the basis of data of laboratory inspection. Replacement hormonal therapy and surgical correction of genitalia is carried out.
Congenital giperplaziya of adrenal glands
The congenital giperplaziya of adrenal glands represents the whole group of diseases with similar clinic, however the cornerstone genetic mutations can be different. Earlier the nosology carried the name an adrenogenital syndrome. Frequency of occurrence of clinically expressed forms makes about 1 case on 12 thousand newborns. About 0,01% in structure of incidence are the share of the erased forms which are shown at teenage age often clinically insignificant. The congenital giperplaziya of adrenal glands is an urgent problem in pediatrics as the hormones produced by adrenal glands have a set of target organs, so, consequences of their lack of an organism are shown on a substantial scale. Deficiency of hormones exerts impact on growth and development of the child, leading to serious consequences.
Reasons of a congenital giperplaziya of adrenal glands
The disease develops owing to genetic defect in any link of a steroidogenez in adrenal glands. Damage can concern one or several enzymes which participate in synthesis of the hormones produced in bark of adrenal glands. The brain layer, as a rule, is not mentioned. The reasons of mutations in the genes which are responsible for synthesis of participants of a steroidogenez and their correct work remain unknown. Now the autosomno-recessive mechanism of inheritance is proved, that is it is necessary for a demonstration of a congenital giperplaziya of adrenal glands that both parents had a defective gene.
The pathogenesis of a disease comes down to violation of synthesis of the glucocorticoids, mineralkortikoid and other hormones produced by adrenal glands. As a result, concentration of adrenokortikotropny hormone (AKTG) as it is a predecessor of above-mentioned hormones increases and stimulates their strengthened education. Increase in a cortical zone of adrenal glands, that is a giperplaziya becomes result of influence of AKTG on a target organ. Despite increase in the sizes, concentration of the hormones produced by adrenal glands does not increase as violation of a chain of their synthesis takes place. Thus, the congenital giperplaziya of adrenal glands in clinic is shown by symptoms of deficiency of hormones against the background of excess of their hormone predecessor – AKTG.
Classification of a congenital giperplaziya of adrenal glands
Pathogenetic classification is based on concrete enzyme which synthesis is broken owing to a genetic mutation. According to this classification, allocate more than ten forms of a disease among which insufficiency of enzyme 21 of a hydroxylase most often occurs. There is a congenital giperplaziya of adrenal glands which reason deficiency 17 hydroxylases, 11 hydroxylases, 17,20 lyase, 22,22-desmolaza, 18 hydroxylases, and also some other forms caused by insufficiency of various enzymes participating in process of a steroidogenez is.
Clinical classification has less complex structure. Allocate three forms of a congenital giperplaziya of adrenal glands: simple (virilny), solteryayushchy, nonclassical (erased, late). The simple form of a disease is followed by violation of development of primary sexual characteristics in children of both floors – a giperandrogeniya at girls, and a makrogenitosomiya at boys. The same symptoms are characteristic of a solteryayushchy form, already in the period of a neonatality attacks of sharp nadpochechnikovy insufficiency (adrenalovy crises) are possible. The nonclassical congenital giperplaziya of adrenal glands is shown is delayed, most often – during puberty. In view of the late beginning earlier this form was considered acquired, however now is proved that genetic defect is its cornerstone.
Symptoms of a congenital giperplaziya of adrenal glands
The disease (except for a late form) is shown since the birth though the first signs can be noticed still antenatalno, during ultrasonography screening. After the delivery the pediatrician can diagnose the wrong development of genitalia in girls at once. As a rule, it is about the increased clitoris, but also completely created penis, and also an underdevelopment or total absence of a vagina and uterus can sometimes meet. As for boys, they note the strengthened development of genitalia and the increased their sizes. Sometimes at a congenital giperplaziya of adrenal glands at children of both floors the skin hyperpegmentation is observed. It is connected with excess synthesis of melanin which predecessor is also AKTG.
Besides violation of sexual development, symptoms of insufficiency of glucocorticoids or mineralkortikoid or both groups of hormones are noted (depending on the level of genetic defect). The lowered pressure at tachycardia is characteristic, pallor or a marble shade of skin. At the same time, such children seem physically more developed in comparison with healthy newborns, differ in the large sizes, the strengthened development of muscles and a skeleton, the small size of fontanels. The congenital giperplaziya of adrenal glands can be shown by premature puberty subsequently with early pilosis which at patients always precedes development of secondary sexual characteristics.
Sharp nadpochechnikovy insufficiency can arise at any form of a disease, however at a solteryayushchy form it is noted early enough, approximately on the second week of life. The complication is followed by critical falling of arterial pressure, tachycardia, vomiting or vomiting. Diarrhea and the progressing loss of body weight is observed. Adrenalovy crisis demands immediate treatment in intensive care unit as this complication of a congenital giperplaziya of adrenal glands often leads to a lethal outcome. Disease symptoms can also amplify after stressful situations, for example, at teenage age.
Diagnostics of a congenital giperplaziya of adrenal glands
Primary diagnostics is carried out to time of ultrasonography inspection of pregnant women. Sometimes during the first or (more often) than the second obstetric ultrasonography it is possible to notice the wrong development of genitals. At suspicion on a congenital giperplaziya of adrenal glands carrying out the additional laboratory researches allowing to determine the level of hormones and concentration of various enzymes of an adrenalovy steroidogenez is possible. Early diagnostics allows experts to decide on further tactics of conducting pregnancy, and also to begin therapeutic actions even before childbirth.
Now mass inspection of newborns on some hereditary pathologies which the congenital giperplaziya of adrenal glands is among is carried out. After the child's birth the disease is diagnosed on the basis of the wrong development of genitalia, but it is possible to confirm the diagnosis and to establish a concrete form of this state only on the basis of results of laboratory diagnostics. The gold standard is the test with AKTG allowing to define authentically its high concentration. Besides, this test is necessary to exclude secondary deficiency of hormones of adrenal glands.
Additional analyses reveal a giperkaliyemiya and a giponatriyemiya, metabolic acidosis and decrease in concentration of glucose in blood. Level of products of metabolism of adrenal glands is defined also in urine. Determination of bone age which at patients is considerably accelerated is carried out. A series of roentgenograms of area of a wrist allows to establish it. Besides, genetic diagnosis of a disease is possible, however this method is expensive, and its use is proved only in case of the established family anamnesis, that is cases of a congenital giperplaziya of adrenal glands in families of parents of the patient.
Treatment and forecast
Replacement hormonal therapy is carried out. Level of glucocorticoids, mineralkortikoid is corrected. Purpose of hormones is possible also at establishment of a congenital giperplaziya of adrenal glands before childbirth. In this case the giperandrogeniya at girls therefore genitalia are formed correctly is eliminated. However antenatalny hormonal therapy is a discussion subject now. Its main complications for mother – hypostases, arterial hypertension and a considerable increase of weight. The remote influence on a fruit is studied now. Except hormonal therapy, surgical correction of genitals is carried out. It is better to perform operation as soon as possible, however its term surely makes a reservation with parents.
Forecast of a disease doubtful. Timely diagnostics and therapy allow to correct considerably hormonal violations and to prevent their further development. However constant control of concentration of hormones as any external or internal stressful factor becomes the reason of change of comprehensibility of medicines is necessary. Development of the sharp nadpochechnikovy insufficiency which is often leading to a lethal outcome in view of a prompt current of a complication can be result. In general it is possible to tell that the congenital giperplaziya of adrenal glands gives in to control, but the disease constitutes serious danger throughout all life. Prevention consists in medico-genetic consultation of the parents having this pathology in the anamnesis.