Inborn hyperplasia of bark of adrenal glands

Description:

The Inborn Hyperplasia of Bark of Adrenal Glands (IHBAG) — group of the diseases inherited till autosomal recessively ways at which development of cortisol is broken by adrenal glands. Genes connected with an adrenal struma code the enzymes participating in a steroidogenesis — a chain of reactions on transformation of cholesterol to steroids.

Displays of a hyperplasia vary depending on the mentioned gene — from changes, incompatible with life at disturbance of synthesis of a holesteroldesmolaza before hardly noticeable manifestations at some mutations of 21 hydroxylases.

Symptoms of the Inborn hyperplasia of bark of adrenal glands:

Insufficiency 20,22 desmolases (inborn lipoid hyperplasia of bark of adrenal glands). About a third of babies with an inborn lipoid hyperplasia of bark of adrenal glands survives. The disease is usually shown at newborns by heavy adrenal insufficiency. As the steroidogenesis in gonads is broken, children with a genetic male usually have a female phenotype though easy virilescence is sometimes noted. The delay of sexual development is almost always noted.

Insufficiency of a 3beta-gidroksisteroiddegidrogenaza. At most of children with insufficiency of a 3beta-gidroksisteroiddegidrogenaza the salt depletion syndrome is observed. At the same time at some patients excretion of Aldosteronum is not broken. Sick boys have disturbances of a sexual differentiation: from a men's phenotype with a hypospadias — to almost normal female phenotype (it indicates variability of fermental defects in testicles). Secondary sexual characteristics can normally develop, but the gynecomastia is usually noted. Insufficiency of a 3beta-gidroksisteroiddegidrogenaza with disturbance of synthesis of C21 steroids, but without disturbances of synthesis of C19 steroids is described. Virilescence of external genitals at newborn girls is caused probably by hypersecretion of a degidroepiandrosteron adrenal glands in the pre-natal period. Function of ovaries at insufficiency of a 3beta-gidroksisteroiddegidrogenaza is studied insufficiently.

Insufficiency of a 17alfa-hydroxylase. More than 180 cases of insufficiency of a 17alfa-hydroxylase are described. At this syndrome at the same time there are signs of deficit of glucocorticoids and sex hormones. Because of deficit of cortisol secretion of AKTG amplifies that 11 cortexones lead to supersecretion. The hypopotassemia and an arterial hypertension result. At female patients also the delay of sexual development is observed, and at patients is a male — a men's pseudohermaphroditism. If the disease was not revealed in the neonatal period, children with a genetic male are usually raised as the girl as they have phenotypical normal outside female generative organs and blindly coming to an end vagina, and testicles remain in an abdominal cavity or in inguinal channels. However ambiguous genitalia also occur at newborns with a genetic male that allows to bring up them as boys. Some newborns have an arterial hypertension. Both at men, and at women it is reduced or there is no axillary and pubic pilosis.

Reasons of the Inborn hyperplasia of bark of adrenal glands:

The inborn hyperplasia of bark of adrenal glands is a group of the autosomal and recessive hereditary diseases caused by genetic defects of enzymes of a steroidogenesis. The main link of a pathogeny of all forms of an inborn hyperplasia of bark of adrenal glands — disturbance of synthesis of cortisol. Constant deficit of cortisol by the principle of negative feedback stimulates secretion of AKTG, as serves as the reason of a hyperplasia of bark of adrenal glands. Besides, surplus of AKTG leads to strengthening of a steroidogenesis. At the same time level not only those steroids which are formed at the stages previous blocked but also those which way of synthesis passes the blocked stage increases. At many forms of an inborn hyperplasia of bark of adrenal glands secretion of adrenal androgens amplifies that leads to virilescence of female patients. Therefore earlier inborn hyperplasia of bark of adrenal glands was called an inborn adrenogenital syndrome.

Treatment of the Inborn hyperplasia of bark of adrenal glands:

Glucocorticoids. Apply a hydrocortisone, a cortisone acetate, Prednisonum or Prednisolonum, dexamethasone or their combinations; use different schemes of administration of these drugs. Disputable is a question of what scheme of treatment is more preferable: purpose of two-three equal doses in days or purpose of the general dose in the morning or in the second half of day. The need for glucocorticoids is usually equivalent to a dose of a hydrocortisone of 10 — 15 mg/sq.m/days. At the forms which are followed by supersecretion of androgens or mineralokortikoid it is necessary to use the minimum doses of glucocorticoids sufficiently suppressing products of these hormones.

Mineralokortikoida. To children with a salt depletion syndrome appoint mineralokortikoida, usually флудрокортизон inside, on 0,1 — 0,3 mg/days.

Compensation of loss of salt. To babies with a solteryayushchy form of an inborn hyperplasia of bark of adrenal glands add table salt (1 — 3 g/days) to a diet to fill shortage of sodium in an organism and to normalize ARP.

Sex hormones. If the inborn hyperplasia of bark of adrenal glands is followed by deficit of sex hormones, for stimulation of development of secondary sexual characteristics at pubertal age carry out replacement therapy by androgens or estrogen.

Surgical treatment. That the structure of external genitals corresponded to a floor of education or a genetic floor, at ambiguous genitalia carry out their surgical correction. Operation is carried out only on the first year of life and at a stable condition of the child.
Analogs of a gonadoliberin. Recently with insufficiency of 21 hydroxylases and true premature sexual development apply analogs of a gonadoliberin in combination with glucocorticoids to treatment of children. So far it is not clear whether such therapy allows to achieve increase in final growth of patients.