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July 31, 2011
The adrenogenital syndrome is subdivided into an inborn form which is considered classical, and nonclassical easy forms which treat post-pubertal and pubertal. They are classified depending on a giperandrogeniya and a shortage level of C21 hydroxylase. At this disease in adrenal glands the excessive quantity of androgens is developed, at the same time hormone a gonadotrophin is emitted in insufficient quantity. In a consequence in ovaries there is a considerable disturbance of the subsequent growth of follicles, and also their maturing.
The main reason of an adrenogenital syndrome inborn deficit of such element as C21 hydroxylase – the special enzyme involved in synthesis of the androgens developed in bark of adrenal glands is considered. This enzyme is formed in enough under the influence of a gene which is in a short shoulder of an autosome – the couple 6th chromosomes. As a rule, inheritance of this disease differs autosomal retsissivnym in character. In the presence in an organism only one patholologically the changed gene the illness can not develop, and only when pathological genes are in various couples of chromosomes, the adrenogenital syndrome can develop.
Symptoms of an adrenogenital syndrome
At an inborn form of an adrenogenital syndrome even during pre-natal development when forming hormonal function of adrenal glands the excessive quantity of androgens is developed. Surplus of androgens leads to emergence of the sexual differentiation relating to a female fruit. By 9-11 week of pre-natal development the fruit already has the sexual structure and bodies characteristic of a female organism though external genitals at this stage just begin to form. At the same time the female phenotype forms from initial type.
Excessive production of testosterone exerts impact on a female fruit and its external genitals, as a result there is a significant increase in a sexual hillock which then takes the form of a penisoobrazny clitoris, labiosakralny folds merge and in a form remind a scrotum. The urogenital sine opens under the deformed clitoris, without being distributed initially on a vagina and an urethra. Therefore at the child's birth often incorrectly define his sex. As gonads ovaries get a female form, quite often call an inborn adrenogenital syndrome a false female hermaphroditism, during pre-natal development hyperproduction of androgens leads to an adrenal struma.
The children having such disease need a constant control from children's endocrinologists. Modern medical techniques provide timely surgical treatment of an adrenogenital syndrome that in the operational way to make correction of a floor and further the child developed on female type. Now patients at whom the adrenogenital syndrome is characterized by a late form quite often address gynecologists-endocrinologists.
At a pubertal inborn form deficit of C21 hydroxylase is shown during pre-natal development during the pubertal period when hormonal function of bark of adrenal glands is only shown. However disturbances are especially noticeable just before approach at the girl of the first periods. And if usually in population the first periods proceed in 12-13 years, then at girls with the inborn adrenogenital syndrome which is characterized by a pubertal form, the first periods come much later, only in 15-16 years.
The menstrual cycle at this disease is rather unstable, periods proceed irregularly, girls have a tendency to an oligomenorrhea. An interval between periods considerable, as a rule, it makes 30-45 days.
The hirsutism is quite pronounced, quite often it is shown in growth of the rod hair located on the white line of a stomach in growth of hair over an upper lip by the man's principle, on hips and around nipples. On a body there is a large number of sebaceous glands, suppuration of hair follicles is quite often observed, face skin becomes fat, a time increases and extend. The girls suffering from a pubertal form of an adrenogenital syndrome differ in quite high growth and a man's constitution, big shoulders and a narrow basin, hypoplasticity of mammary glands is observed. As a rule, developing of acne rash or the complaint to an irregular menstrual cycle becomes the main complaints of such patients at the address to physicians.
At this post-pubertal form of a disease symptoms of an adrenogenital syndrome at girls are noticeable only after puberty. Quite often symptoms become pronounced after medical abortion, during not developing pregnancy or after a spontaneous abortion. It is expressed in disturbance of a menstrual cycle, intervals between periods considerably increase, menstrual allocations become scanty, quite often there are delays.
In this case the giperandrogeniya is characterized by rather soft signs of manifestation, the hirsutism is almost not expressed and is shown only in insignificant pilosis on the white line on a stomach, a few hair can be on shins, about nipples, or over an upper lip. Mammary glands at the girl develop in the same way as at her contemporaries, the constitution forms on female type, metabolic disturbances are not shown.
Diagnosis of an adrenogenital syndrome
The adrenogenital syndrome can be revealed by means of modern hormonal researches, and also at visual survey. At the same time phenotypical and anamnestic data, such as pilosis in places, uncharacteristic for women, a constitution by the man's principle, development of mammary glands, a state and a habit view of skin, enlarged pores and existence of acne rash are considered. The adrenogenital syndrome is characterized by essential disturbance of synthesis of steroids on 17-ONP therefore existence of this disease is demonstrated by increase of level of hormones in blood and identification of two hormones — DEA-S and DEA which are considered as predecessors of testosterone.
It is necessary to define also an indicator 17-KC during diagnosis, revealed by the analysis of urine on existence of metabolites of androgens in it. During blood test for diagnosis of an adrenogenital syndrome the level of hormones of DEA-S and 17-ONP is defined. At complex survey for full diagnosis it is necessary to consider symptoms of a giperandrogeniya and other disturbances in work of endocrine system. At the same time an indicator 17-KC in urine and the level of DEA-S, T hormones, 17-ONP, and DEA it is necessary to reveal twice – at first before test with dexamethasone and other glucocorticoids, and then after its implementation. If the level of hormones in the analysis decreases to 70-75%, it demonstrates development of androgens only in bark of adrenal glands.
Exact diagnosis of an adrenogenital syndrome includes ultrasonography of ovaries during which anovulation comes to light, it can be defined if there are follicles of various level of a maturity which do not exceed the preovulyatorny sizes. As a rule, in such cases ovaries are increased, but, unlike a syndrome of polycystic ovaries, at an adrenogenital syndrome in them neither increase in volume of a stroma, nor existence small a follicle directly under an ovary capsule is observed. In diagnosis measurement of basal temperature is quite often applied, at the same time the characteristic duration of phases – a long first phase of a menstrual cycle and a short phase, the second for time, testifies to a disease.
Treatment of an adrenogenital syndrome
During treatment of an adrenogenital syndrome use glucocorticoid drugs which can correct hormonal function in adrenal glands. Quite often doctors use such drug as dexamethasone which day dose should not exceed 0,5-0,25 mg. During treatment the level of androgens in blood of the patient and the metabolites which are in urine is necessary regular control. If after that the menstrual cycle is normalized, it is possible to consider therapy successful and effective. After drug treatment there have to be ovulatory cycles which existence can be revealed by measurement of basal temperature. If at the same time change of phases of a menstrual cycle and their normalization was revealed, then in the middle of a menstrual cycle at the woman there can come pregnancy.
But even during pregnancy it is necessary to continue therapeutic treatment by glucocorticoids up to the 13th week to avoid a spontaneous abortion. To this term the placenta which will provide development of enough the hormones necessary for the correct forming of a fruit already correctly forms. The patients suffering from an adrenogenital syndrome need careful supervision by doctors at all stages of pregnancy, full treatment at the first stages of forming of a fruit is especially important. Basal temperature needs to be taken daily up to the 9th week of pregnancy, each two weeks ultrasonic diagnosis is necessary to reveal a tone of a myometrium and to investigate a condition of amotio of fetal egg.
If the patient had spontaneous abortions earlier it is necessary to accept estrogensoderzhashchy drugs considerably to improve blood supply of an embryo during pre-natal development. As preparation for pregnancy to women appoint drug Microfollinum which daily dose makes 0,25-0,5 mg, or a proginov in number of 1-2 mg. The condition of the woman needs to be controlled carefully, especially it is necessary to pay attention to complaints to developing of pains in the bottom of a stomach, and also to existence of bloody allocations from urinogenital ways.
Now at an adrenogenital syndrome in treatment not of incubation of pregnancy during the I-II trimester use drug Duphaston who is analog of natural progesterone. This drug is not characterized by androgenic effect that favourably distinguishes it from means of a norsteroidny row which use can lead to a masculinization of a fruit, especially female. This drug is used also for treatment of istmiko-cervical insufficiency which quite often is an associated disease at an adrenogenital syndrome.
If pregnancy, despite the carried-out therapy, does not come, the ovulation does not occur, and duration of phases of a menstrual cycle remains former, in addition to therapy by glucocorticoids, it is necessary to stimulate approach of an ovulation. The clomifene appointed in a dose of 50-100 mg at certain stages of a menstrual cycle is for this purpose used. When the woman sees a doctor only with complaints to excess pilosis by the man's principle, irregular periods, or on pustulous rashes on a face and a body, but is not interested in pregnancy, therapy is carried out already by other drugs.
As a rule, such means contain anti-androgens and estrogen, most often among them is used diane-35. In the presence of a hirsutism in a uniform complex with it it is appointed tsiproteron acetate which dose makes 25-50 mg a day. The course of treatment is expected by this drug 12-14 days. Full drug treatment takes three months before half a year, only then therapy becomes effective. But the reason of pathology remains not eliminated therefore after the treatment termination symptoms of an adrenogenital syndrome begin to be shown again.
Use of the glucocorticoids allowing to normalize function of ovaries does not lead to essential reduction of a hirsutism. To get rid of this problem, it is necessary to accept oral contraceptives with progestins, such as gestoden, dezogestret, norgestimat. It is possible to distinguish from non-hormonal drugs veroshpiron which it is necessary to accept within half a year on 100 mg daily, in this case at most of patients essential reduction of a hirsutism is observed.
On a post-pubertal form of this disease to patients, not persons interested to become pregnant, hormonal drugs, as a rule, are not appointed, especially if delays have no long character, and an acne enanthesis is absolutely insignificant. If the woman needs to appoint hormonal contraceptives, it is necessary to give preference to such drugs as Mersilon, gestoden, dezogestret, norgestimat, but acceptance of such drugs over a year in a row is not recommended.