DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY IN CONGENITAL ADRENAL HYPERPLASIA IN UZBEKISTAN
Ключевые слова:
Congenital adrenal hyperplasia, 21-hydroxylase deficiency, virilization, neonatal screening, UzbekistanАннотация
Congenital adrenal hyperplasia (CAH) is a group of autosomal-recessive diseases characterized by a defect in one of the enzymes or transport proteins involved in the synthesis of cortisol in the adrenal cortex. Of the seven described forms of CAH, 21-hydroxylase deficiency is the most prevalent. This study aims to evaluate and enhance diagnostic methods for CAH in female patients in Uzbekistan.
Библиографические ссылки
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