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SCIENTIFIC-PRACTICAL PEER-REVIEWED MONTHLY JOURNAL.
INSTITUTION OF MINISTRY OF PUBLIC HEALTH OF THE REPUBLIC OF BELARUS

CONGENITAL ADRENAL HYPERPLASIA IN CHILDREN

Congenital adrenal hyperplasia is a group of diseases with autosomal recessive type of inheritance characterized by defects in one of the enzymes involved in the adrenal steroidogenesis. 21-hydroxylase deficiency is the most common (90-95%) cause of congenital adrenal hyperplasia. Depending on the severity of 21-hydroxylase deficiency, the disease is divided into three forms: the salt wasting form, the simple virile form and the nonclassic form. Currently, more than 30 countries have implemented programmes of neonatal screening for congenital adrenal hyperplasia. The article presents a literature review and the authors' own observation of two different forms of congenital dysfunction of the adrenal cortex a boy and his sister have.