Treatment of congenital adrenal hyperplasia
Endocrinology / / August 12, 2017
Treatment of congenital virilizing adrenal hyperplasia is based on the replacement of the existing defect formation cortisol administered externally cortisol, cortisone or their synthetic analogs.Glucocorticoid exert an inhibitory effect on the release of ACTH by the pituitary gland.Termination excessive stimulation of the adrenal leads to products that 17-keto steroids is reduced to normal levels.
Treatment should be under the control of the allocation of a 17-keto steroids, the daily excretion of which must be held within the lower variants of the age norm.
Wilkins recommends for the treatment of virility forms of congenital virilizing adrenal hyperplasia intramuscular injection of cortisone.Treatment begins with a relatively large doses of cortisone that have a suppressive effect on adrenocorticotropic pituitary function.For children younger than two years old, the dose is 25 mg per day for older children and adults - 50-100 mg per day.5-10 days after administration of a dose of 17-ketosteroids sel
cortisone orally in divided portions it is given 3-4 times a day and to effect a dose typically required 2-4 times greater than when using the drug intramuscularly.
Maintenance doses of cortisone are approximately equal doses commonly used as replacement therapy in patients with chronic insufficiency of the adrenal cortex, and are consistent in their glikokortikoidnoy activity of cortisol, secreted per day by the adrenal cortex of healthy people under physiological conditions.
under stress - when the physical or mental injuries, operations or infections when the body's need for increased glucocorticoid, be aware that the patient's own adrenal glands are not able to respond to the situation increase in corticosteroid production.cortisone dose should be rapidly raised to 50-150 mg per day (intramuscular), by intramuscular injections may be added into the administration of cortisone, and in some cases may require intravenous drugs hydrocortisone or prednisolone.In a subsequent dose of cortisone gradually reduced again.
If young children, given the opportunity to display their lack of mineralocorticoid adrenal function, even virility form of the disease, cortisone is the best drug for the treatment of congenital virilizing adrenal hyperplasia, the older children and adults can be successfully applied prednisoloneinside.The initial dose of prednisolone - 20 mg per day - usually rapidly reduces the release of 17-keto steroids to normal levels, and within 5-7 days not start to reduce the dose of the drug, passing to the supporting doses is usually 7,5-12,5 mg per day.
Given the fact that glucocorticoid drugs in congenital virilizing adrenal hyperplasia are given in physiological doses, the effect of cortisol, associated with its mineralocorticoid activity, has no negative effect on the body, and less mineralocorticoid activity of prednisolone did not give him advantages over cortisone.
not have advantages also more active glikokortikoidnye drugs as triamcinolone and dexamethasone.Triamcinolone in the treatment of complications were observed: generalized hypertrichosis, psychosis, nipple swelling of the optic nerve.When using dexamethasone sightings Cushing's symptoms were observed.
Hormone therapy virilizing congenital adrenal hyperplasia should begin at the earliest possible age - as soon as the diagnosis.With timely start of treatment can ensure the normal physical development of proper and timely sexual development in both sexes.
Boys, like girls, and treatment should begin at the earliest possible age.The object of this treatment is to prevent or suspension precocious puberty, early epiphyseal cartilage ossification and cessation of growth.
If treatment is not promptly initiated, in females it may be taken for the purpose of feminization and later in life.The maximum age at which treatment was started - 49 years.
At the beginning of treatment in older girls and women who have sex at birth was incorrectly defined as a male, should take into account the psychological difficulties that may arise in connection with the development of female secondary sex characteristics.
Boys after imperforate epiphysis, when the further growth of the body is impossible, there is no need for the appointment of steroid therapy.Treatment in these cases it may be necessary at a later age in adult men in cases where they are testicles and no atrophic spermatogenesis.In these cases, treatment with cortisone can lead to the elimination of sterility.
Treatment maintenance doses of cortisone or prednisone in boys should be carried out before the end of puberty, and in females - infinitely long.
Girls with anomalies of genital organs - hypertrophy of the clitoris and the presence of the urogenital sinus, along with hormone therapy, should be carried out surgical treatment - klitorektomiya gubomoshonochnogo and cut holes - opening the entrance to the vagina.Removal of the clitoris does not deprive patients at a later age of sexual feeling.Elimination of defects of genitals surgically desirable to produce in early childhood, but if diagnosed late, operation can be performed and the older girls and women.
patients who have milder forms of adrenal disorders, occurring on the type of congenital virilizing adrenal hyperplasia, revealed in poslepubertatnom period, menstrual irregularities, development of hypertrichosis and sterility, treatment begins with the appearance of the relevant symptoms.
If treatment is started before the age of eight, when the degree of ossification of the skeleton corresponds to no more than 11 or 12 years, children develop normally.At the beginning of treatment after eight years, with the age of the bone corresponding to 13-14 years in girls while reducing signs of masculinization quickly begin development of the mammary glands and the appearance of other signs of feminization.After a few months of menstruation may appear and establish the menstrual cycle with ovulation - causes premature sexual development on izoseksualnomu type.
In older girls and women in the coming months after initiation of therapy appear more or less pronounced signs of feminization - changing contours of the body due to the redistribution of subcutaneous fat on the female type, made more feminine facial features, acne disappear.Developing breast cancer that women who started treatment later in life, yet often remain small.
Figure: virilizing congenital adrenal hyperplasia.The patient performed therapy after 6 months of treatment with prednisolone noted the development of the mammary glands.
Some patients set ovulatory menstrual cycles, pregnancies and healthy babies are described.More often, however, even if pregnancy occurs in these patients, it ends miscarriage at 3-4-th month.In some patients with severe congenital virilizing adrenal hyperplasia, in which treatment was initiated at the age of 30 years, in spite of the considerable degree of feminization, ovulatory menstrual cycle is not set and may appear acyclic uterine bleeding.In such cases, the application shows the cyclical estrogen and progesterone or a progesterone as with dysfunctional uterine bleeding of another origin.
The majority of patients who as a result of the treatment is established menstrual cycle, menses are regular, as they take corticosteroids in doses sufficient to maintain the excretion of 17-keto steroids at a normal level.By reducing the doses of the menstrual cycle is broken.However, we have seen a sick 19 years, at which menstruation appeared for the first time after short-term treatment with cortisone.Later, after the cessation of treatment, when the allocation of a 17-keto steroids again significantly increased and exceeded the baseline, periodic uterine bleeding she continued for several months.
symptoms worse than other susceptible regression of cortisone in the treatment of both children and adults, is hypertrichosis.
In the treatment of congenital virilizing adrenal hyperplasia syndrome with salt loss in mild cases can be treated with cortisone is enough to combine with the additional intake of salt.cortisone effect associated with its moderate mineralocorticoid action and may develop braking any adrenal steroid abnormal promoting sodium excretion.
In more severe cases, along with the introduction of cortisone is necessary to administer the drug, which has mineralocorticoid activity, -dezoksikortikosterona.Usually children under one year is sufficient introduction of 1.5-2 mg dezoksikortikosteronatsetata in an oil solution of 1 every 3-4 days.Wilkins recommends subcutaneous implantation of 2-5 deoxycorticosterone tablets of 125 mg each, the effect of which persists for 9-12 months.
- Physiology of the adrenal cortex
- Chronic adrenal insufficiency.Addison's disease
- Pregnancy in patients with chronic insufficiency of the adrenal cortex
- blood supply and innervation of the adrenal
- Clinical evaluation of laboratory studies of the functional state of the adrenal cortex
- Determination of corticosteroids and their metabolites in urine
- Diagnosis and differential diagnosis of chronic adrenal insufficiency
- Treatment of chronicadrenal insufficiency
- apoplexy adrenal cortex.Syndrome Waterhouse-Friderichsen (waterhouse- friderichsen)
- virilizing congenital adrenal hyperplasia
- biosynthesis and metabolism of hormones of the adrenal cortex
- Acute failure of the adrenal cortex
In the case of pronounced dehydration, hypotension, vomiting, and other signs of adrenocortical insufficiency need urgent administration of saline solution parenterally - 500-1000 ml saline infusion over a day.
In children with a syndrome of loss of salt are on steroid therapy, the risk of adrenal insufficiency under stress is greater than in patients with virilizing form of congenital virilizing adrenal hyperplasia without evidence of violations of salt metabolism.Therefore, in case of injury, infection, and so on. N. Cortisone dose they should be quickly increased.For greater speed of action of the drug is recommended that an additional amount of cortisone administered orally as tablets.It may be necessary intravenous administration of soluble drugs hydrocortisone or prednisolone.
Children who in the first year of life was salt loss syndrome in older age usually eliminates the need for supplementation of salts or mineralocorticoid administration, and they become resistant to infection and injury, no less than sick form of virility.deaths of children from adrenal insufficiency, and in older age, however described.Therefore, watching the children, borne in early childhood salt loss syndrome, and in later life should be especially careful, and in conditions of stress is necessary to bear in mind the possibility of the need to strengthen the steroid therapy.
In hypertensive form of congenital virilizing adrenal hyperplasia inhibition of adrenocorticotropic pituitary function cortisone or prednisone leads to a decrease in production by the adrenal glands are not only 17-keto steroids that have androgenic activity, and deoxycorticosterone.Therefore cortisone in the treatment at the same doses that when virilnoe simple form of the disease, while decreasing virilizing phenomena, and reduced blood pressure.