Register of children with congenital adrenal hyperplasia in the Sakha Republic (Yakutia): the salt-wasting form

Congenital adrenal hyperplasia is one of the most common hereditary diseases. In 90 % of cases, it is due to the enzyme 21-hydroxylase deficiency. The frequency of congenital adrenal hyperplasia - both classical and non-classical forms - is largely due to ethnicity. The greatest prevalence of this pathology is registered in the populations of Iberians, people from the Caucasus and Ashkenazi Jews. According to neonatal screenings, the prevalence of the classical form of the 21-hydroxylase deficiency (both salt-wasting and virilizing) makes 1:28000 in China, 1:15000 in the United States. In Moscow, its prevalence is 1:100000, in Tyumen - 1:10000. The article presents clinical data of the register of children with congenital adrenal hyperplasia in the Sakha Republic (Yakutia). The problem of timely diagnosis of the classical form of congenital adrenal hyperplasia is of particular importance. In this article, we managed to systematize all available Russian and international literature on the topic. In addition, the article includes the data describing the characteristic clinical picture of congenital adrenal hyperplasia according to the data of the Republic’s Register, and the clinical case of a patient with the salt-wasting form of congenital adrenal hyperplasia.

adrenal hyperplasia, salt-wasting form, virilizing form, clinical case, crises, register, treatment, diagnosis, children, Yakutia

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