Lack of 11 - hydroxylase

August 12, 2017 17:51 | Genetic Diseases

enzyme 11-hydroxylase is also involved in the synthesis of adrenal hormones (such as glucocorticoids and mineralocorticoids).The lack of the hormone cortisol is accompanied by excessive production of adrenocorticotropic hormone and pituitary gland of male hormones (androgens).Intermediate products of Adrenal hormones synthesis that accumulate in the body resulting in an excess amount, possess mineralocorticoid activity, ie. E. Have an impact on the water-salt exchange.Increase their number leads to a delay in the body of sodium and water, and the resulting overflow bloodstream liquid developing hypertension.

At birth, the baby showed signs of in utero began overproduction of androgens, signs of chronic adrenal insufficiency (rapid weight loss, decreased appetite, vomiting, darkening of nipples, the median line of the abdomen and external genitalia), combined with an increase in blood pressure, resistant to antihypertensive drugs.Therefore, this form is called hypertensive.In the first year of life may b

e crises of acute adrenal insufficiency (ie. E., This form becomes in its manifestations similar to solteryayuschey form).

most reliable methods identify congenital adrenal hyperplasia are the identification of cells of patients with a defective gene, as well as determination of serum and urine intermediates in the adrenal hormones.In the anomalous structure of the external genitalia is necessary to determine the genetic sex of the child.

To identify congenital adrenal hyperplasia, as well as to determine the type of the enzyme defect that led to the development of this disease, it is necessary to go out a thorough investigation of biochemical parameters of blood serum, and in some cases, and urine that is produced in specialized endocrine hospitals.The entire plan of survey required in every case of the disease is strictly individual and is determined by the attending physician.

treatment. In congenital adrenal hyperplasia spend hormone replacement therapy with glucocorticoids.If solteryayuschey therapy in form of the disease are also added other adrenal hormones and in view of the fact that their formation also in this organ is disrupted.It hormones are known as mineralocorticoid.Glucocorticoids choice is cortisol, produced in the form of tablets.Daily dose of this drug is 15-20 mg / m2 of body surface.In this case the daily dose is divided into 2-3 doses, most hormone taken in the morning.Babies synthetic glucocorticoids such as prednisone and dexamethasone, it is better not to take, because their background is observed growth retardation.In some cases, the reception of synthetic glucocorticoids in the evening or at night is quite justified.This makes it possible to reduce the increased production of adrenocorticotropic hormone.The latter is a pituitary hormone (brain iron) and influences the adrenals, stimulating the formation of hormones including androgen.When solteryayuschih forms should be the appointment of such a drug as kortinef, a daily dose of 20-200 mg.

positive effect in the treatment of hormonal preparations, namely, glucocorticoids, is that all signs of the disease (symptoms) gradually disappear or become less pronounced.Moreover, child growth and development and improve, approaching more and more to the age requirements.In addition to these data, required laboratory monitoring of indicators of the level of hormones in the blood serum, as well as some other substances involved in the exchange.

When solteryayuschem Stroke (acute adrenal insufficiency) simultaneously administered prednisone at a dose of 10 mg in infants, 25 mg for children, 50 mg for adults.Simultaneously, the transfusion of 0.9% sodium chloride solution (Phys. Solution) and 5% glucose solution in a volume of 100-200 ml / kg body weight per day.

Late identify forms of congenital adrenal hyperplasia with the appearance of male characteristics in people with a genetically female gender may need plastic surgery for the external genitalia.In adults, as well as when the disease develops after the end of puberty, when growth stops most often prescribed synthetic glucocorticoids such as dexamethasone 0.25 mg per day.As a rule, additionally appointed drugs that reduce the activity and reduce the effect of male hormones of the adrenal glands.These drugs are known as anti-androgens, and include, for example, cyproterone (androkur).

before birth should immediately begin treatment of this disease (prenatal therapy) In identifying congenital adrenal hyperplasia in children.The drug of choice in this case is dexamethasone, which crosses the placenta to the unmodified form.If the diagnosis was made on 5-6 th week of pregnancy, drug is given three times daily at a dose of 0.5 mg.If it turns out later that the fetus is female, and he is homozygous, then the treatment is continued until the end of pregnancy.Otherwise, treatment is gradually canceled.

In simplest form, a favorable prognosis for life, and in the case of early treatment - and for normal growth and sexual development.In hypertensive form of death can occur as a result of a brain hemorrhage, and renal failure.Weather is always serious in children with solteryayuschey form.In the case of this form of the disease the mortality rate is about 10% of all cases.Prognosis is improved if the child through proper treatment, will live up to one year.

prenatal diagnosis of congenital adrenal hyperplasia due to deficiency of the enzyme 21-hydroxylase is carried out in two stages.The first study carried out on 9-10 week of pregnancy by fetal sex determination and conducting special studies of genetic material obtained by chorionic villus sampling.At 13-16 weeks of gestation examined the level of 17-hydroxyprogesterone in the amniotic fluid.Indications for prenatal diagnosis is the presence in the marriage of a child with a proven 21-hydroxylase deficiency, the marriage of two known carriers of the defective gene, or a patient with a known carrier.High levels of 17-hydroxyprogesterone in the amniotic fluid indicates the presence of the fetus deficiency of the enzyme 21-hydroxylase.Appointment hormonal drug dexamethasone such women with 5-6 week of pregnancy and until the onset of labor can prevent or significantly reduce the intensity of the appearance of male characteristics in female fetuses.There is also the possibility of prenatal diagnosis of deficiency of the enzyme 11-hydroxylase.