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After birth, the symptoms of androgenization increase in children of lamivudine sexes. The size of the clitoris increases in the girl, its tension is noted. In boys, the size of the penis increases, erections appear. It should be noted that the symptoms of androgenization may not appear in the first 1.5 years of a child's life. By the age of 2-3, sexual hair growth and acne vulgaris appear in children of both sexes, the voice coarsens, and the muscles hypertrophy. In the first years of life, the linear growth of children is accelerated, but the degree of bone differentiation is ahead of growth, growth zones are closed by 9-10 years.

The degree of pre- and postnatal androgenization in patients with 21-hydroxylase deficiency can have significant individual variations even in sick siblings in the same family with the same genetic defect. This may be due to the individual characteristics of the metabolism of androgen precursors and the difference in androgen receptor activity in a particular patient.

Complete loss of 21-hydroxylase activity, present in 75% of children withdeficiency of P450c21 leads to a decrease in aldosterone biosynthesis. Aldosterone is necessary for normal sodium homeostasis, its deficiency leads to sodium loss through the kidneys, intestines, and sweat glands. The presence of a pronounced salt-losing component associated with mineralocorticoid deficiency poses a serious threat to buy combivir online from the first days of life. 3-4 days after birth, hyperkalemia increases, after a few days hyponatremia and hypernatriuria develop. Loss of salt leads to severe dehydration, weight loss. Dehydration is aggravated by frequent and massive vomiting caused by hyperkalemia. In the absence of therapy, the death of the child may occur as a result of collapse and cardiogenic shock.

Diagnosis of 21-hydroxylase deficiency is based on.

An ultrasound examination of the pelvic organs is performed. The presence of the uterus and palpable gonads indicates testicular dysgenesis (rarely, true hermaphroditism). The absence of the uterus with palpable gonads indicates false male hermaphroditism. The absence of palpable gonads in a child with a bisexual external genitalia greatly increases the likelihood of 21-hydroxylase deficiency. In this case, an immediate hormonal examination is necessary.

The main criterion for the hormonal diagnosis of Combivir pills is an increase in the level of 17-OPG in the blood serum. The content of 17-OPG in the classical forms of the disease is tens and hundreds of times higher than the normative indicators for the age of the child. In premature babies, children who have suffered a severe birth injury, and those born with low birth weight at normal gestation periods, the level of 17-OPG may be elevated in the absence of 21-hydroxylase deficiency. In these cases, multiple determination of the level of 17-OPG is recommended (2-3-4 times with an interval of 5-7 days). A decrease in the level of 17-OPG in dynamics makes it possible to exclude 21-hydroxylase deficiency.

In parallel, karyotyping is carried out. A high level of 17-OPG definitively confirms the diagnosis. The development of a salt-wasting crisis with a deficiency of 21-hydroxylase is rarely observed in newborns and children in the first 7 days of life. Until hormonal evidence is available to buy Combivir online or rule out 21-hydroxylase deficiency, all children with abnormal genitalia without palpable testicles should be monitored for electrolyte levels.

An increase in the level of K and a decrease in the level of Na, accompanied by clinical manifestations of salt-wasting syndrome in a child with a bisexual structure of the genitals, should be considered as a manifestation of 21-hydroxylase deficiency and therapy should be prescribed immediately, without waiting for the results of a hormonal analysis.

The presence of 21-hydroxylase deficiency in newborn boys can be suspected only in the presence of a salt-wasting syndrome. If symptoms such as poor weight gain, profuse regurgitation, loose stools, increasing dehydration appear, an immediate determination of blood electrolytes is necessary.

If hyperkalemia, hyponatremia and progressive dehydration are detected, all newborn boys should be tested for 17-OPG.

Treatment of 21-hydroxylase deficiency

The general goal of treating congenital adrenal dysfunction is

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The main method of therapy for 21-hydroxylase deficiency is the use of glucocorticoids, which suppress the hypersecretion of ACTH and normalize the production of androgens by the adrenal glands.

Joe Petrock
Executive Director

Various drugs with glucocorticoid activity are used. prednisolone, cortisone, dexamethasone. However, these synthetic cortisol analogues have a negative effect on growth processes, their prolonged effect can quickly lead to overdose symptoms. For children with open growth zones, especially younger ones, the most optimal drugs should be consideredTake tablet analogs of hydrocortisone (Cortef, Pharmacia).

The initial daily dose of hydrocortisone required to suppress ACTH in children of the first year of life can reach 20-25 mg/m2. However, prolonged use of these doses in a child should be avoided. On average, in children older than 1 year, the daily dose of hydrocortisone should be 10-15 mg / m 2. The drug is given three times a day in equal doses. Higher doses of hydrocortisone lead to persistent growth retardation and other Cushingoid manifestations. In children with growth zones close to closure, prolonged glucocorticoid drugs should be used, which have a more pronounced ACTH-suppressing effect.

Kathryn Nagib
Foundation Manager
Kathryn Nagib
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