congenital adrenal hyperplasia
congenital adrenal hyperplasia - a set of clinical and laboratory disorders caused by inherited defects in the production of corticosteroids in the background of marked shortage of the enzyme 21-hydroxylase.Signs of adrenogenital syndrome may occur at any age with a primary lesion representatives of the female half of humanity.
reasons adrenogenital syndrome
immediate etiopathogenetic factor in the emergence of adrenogenital syndrome is the lack of production of enzymes that have a reinforcing effect on the process of production by the adrenal cortex hormonal substances.In healthy humans the normal regulation is provided for synthesizing the gene localized in one pair of autosomes sixth in this connection, congenital adrenal hyperplasia should be referred to a group of diseases with a recessive mode of inheritance.There is a group of patients with the latent form of the adrenogenital syndrome, the so-called carriers which are married to someone who has sy
based etiopathogenetic classification adrenogenital syndrome put character enzymatic defect.Thus, the virility of his form is accompanied by a partial deficiency of the enzyme 21-hydroxylase, while solteryayuschaya form is characterized by additional impairment processes of water and mineral metabolism caused by a failure in the production of aldosterone and cortisol by the adrenal cortex.
Boys signs adrenogenital syndrome is extremely rare and are accompanied by minor clinical manifestations in the form of premature development of secondary sexual characteristics phenotype.
According to numerous scientific research in the development of adrenogenital syndrome in different segments of the population, this pathology suffer more persons of European race.
forms adrenogenital syndrome
In the world practice, endocrinologists used clinical classification adrenogenital syndrome, which is allocated according to one major or classic form of the disease, and two non-classical forms with mild clinical picture.Formation of the phenotypic characteristics of this rare disease has a clear connection with the degree of deficiency of the enzyme 21-hydroxylase and related hyperandrogenism.
Congenital adrenogenital syndrome occurring in the classical form, triggered by changes in the functioning of the adrenal glands in the period of their favorites during fetal development.Due to the fact that the excess production of androgens has a direct influence on the formation of primary sexual characteristics, there is the full development of the internal pelvic organs of female type, while the formation of the external genitalia is at an early stage of development.
In the future, the impact of excess testosterone provokes only virilization of the external genitalia in female fetuses, then there is an increase in genital tubercle, which is converted to the clitoris penisoobraznoy form, merging and forming folds labiosakralnyh psevdomoshonki, violation of the separation of the urogenital sinus in the vagina and urethra.This type of virilization difficult to determine the sex of your baby right after birth.
addition to changes in the shape and functioning of the reproductive organs, the child is observed adrenal hyperplasia due to excessive production of androgens from the adrenal glands start favorites.
congenital adrenal hyperplasia in children, occurring in the classical form, is the rationale for the dynamic observation in pediatric endocrinologist who determines the optimal age of the patient for surgical plastic malformations and further medical treatment to a child's development of female type.
In a situation where a birth defect of the enzyme 21-hydroxylase, had no impact on the functioning of the adrenal gland during the fetal development, there is one critical period of development of phenotypic traits adrenogenital syndrome - during pubertal development.Therefore, this form of adrenogenital syndrome is the second name of "pubertal".
debut of clinical symptoms occurs during adrenarche that comes within 3 years before the onset of menstruation and is in the early development of secondary sexual characteristics, and pubertal pilosis excess "growth spurt."For this category of patients is a characteristic feature of the lag period of menarche, which falls on the age of 16 years.In girls with adrenogenital syndrome during the normalization of the menstrual cycle it takes a very long period of time.
Patients with pubertal form of adrenogenital syndrome have characteristic phenotypic traits that distinguish them from their peers (bold type of skin with a tendency to the appearance of acne follicular type, excessive body hair pivotal skin, tall and broad-shouldered, hypoplasia of the breast).An experienced endocrinologist after initial examination, the patient can establish the correct diagnosis.
If there is excess production of androgens after puberty, namely after the age of twenty years, women worried about the inability to conceive a child, and frequent episodes of miscarriage in early pregnancy.The difficulties of conception explains the irregularity of the menstrual cycle with a tendency to lengthen intermenstrual period.Gross change in the phenotype of this disease is not observed, and the diagnosis is possible only after a thorough examination of the patient with the use of laboratory and instrumental techniques.
Diagnostics adrenogenital syndrome
presence of the patient-specific clinical manifestations makes endocrinologist or gynecologist after the initial examination to suspect the presence of adrenogenital syndrome, the final significant conclusion can only be set after the laboratory examination.Hormone adrenogenital syndrome diagnosis is the gold standard for a long period of time.
adrenogenital syndrome is characterized by impaired corticosteroid synthesizing phase output 17 SNPs, increased levels of this parameter is in the blood is a diagnostic criterion of the endocrine pathology.Urinalysis with the definition of saturation of 17-ketosteroids which are metabolites of androgens, is of great importance in the diagnosis adrenogenital syndrome.
In difficult clinical situations, when there is a need for differential diagnosis of adrenal syndrome and other endocrine abnormalities, accompanied by hyperandrogenism, you must produce a medical stress test with a glucocorticosteroid.Patients with classic adrenogenital syndrome, after the level of the sample steroids decreases not less than 70% in the blood and urine.
Among the tools most informative imaging techniques have an ultrasound scan of the pelvic organs to determine the degree of maturity of the follicular apparatus of the ovaries.Due to the fact that most patients adrenogenital syndrome, anovulatory menstrual cycle observed at echoscopy shows a modest increase ovarian parameters to the large number of immature follicles.
Treatment adrenogenital syndrome
laboratory and instrumental confirmation of the diagnosis is the rationale for adequate hormone replacement therapy with drugs glucocorticosteroid series.
Assign any glyukokortikosterioda have to be strictly dosed and controlled by laboratory blood and urine.Use of dexamethasone in a daily dose of 0.25 mg should be performed before the removal of the main clinical manifestations of the disease (cyclical normalization of basal body temperature, elimination of dysmenorrhea, ehoskopicheski confirmed the removal of the ovaries multifollikulyarnosti).The absolute criterion of positive effectiveness of hormone therapy in this case is an offensive planned pregnancy, but this fact is not an indication for discontinuation of the drug.Dexamethasone during pregnancy is advisable to apply until the formation of the placenta, which provides the normalization of hormonal status of the fetus.
Women who during pregnancy coincided with hormonal drugs glucocorticoid series, subject to hospitalization to conduct dynamic ultrasound examination and determine the concentration of 17-ketosteroids in urine.The presence of pregnant women receiving hormone therapy for the treatment of adrenogenital syndrome, spontaneous abortion history is the rationale for assigning estroensoderzhaschih hormonal methods, the effect of which is aimed at improving receipt of oxygenated blood to the developing fetus.Among the wide range of this group of drugs most widely mikrofollin, the effectiveness of which the maximum therapeutic dose of 0.25 mg per day.The appearance of a woman bleeding or pulling pain in the lower abdomen is an indication for the abolition of the drug.
Due to the fact that women with adrenogenital syndrome have problems with gestation and a tendency to the appearance of spontaneous abortion in early pregnancy, appropriate in this situation is the appointment of a natural progesterone analogue "duphaston" a daily dose of 20 mg.Long-term use of the drug eliminates istmikotservikalnuyu failure, which is the most common cause of spontaneous abortion.
drugs that have a stimulating effect on the development process of ovulation is clomiphene, the use of which is recommended to be combined with glucocorticoid therapy.Patients must be observed dosing regimen, it is to receive a daily dose of 100 mg of the third to seventh day of the menstrual cycle each month before pregnancy.
In a situation where the signs debuted adrenogenital syndrome in adulthood, when a woman is not interested in preserving reproductive function, recommended treatment of disease using combined preparations containing anti-androgens and estrogens (Androkur at a dosage of 25 mg).Keep in mind that this group of drugs classified as symptomatic, eliminate minor manifestations of the disease phenotype, and the abolition of the drug might reverse disease progression.
To combat gipergisutizmom hormone therapy does not apply in this situation, endocrinologists have resorted to the appointment veroshpiron a daily dose of 100 mg in the morning, long-term use of which significantly reduces the symptoms of excess body hair.
field of application of hormonal contraceptive products containing low-dose progestin component devoid of androgenic influence, is a group of patients with symptoms of post-pubertal late form of adrenogenital syndrome.Before using this group of drugs should ensure the patient's unwillingness to maintain reproductive function, as these hormonal Propafenone provoke the development of hypogonadotropic amenorrhea type.