Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by deficiency of 21-hydroxylase (CYP21), which inhibits adrenal synthesis of cortisol and aldosterone. The reduced cortisol synthesis leads to increased ACTH secretion, which results in adrenal gland hyperplasia, accumulation of steroid precursors and excessive adrenal androgen production, causing pseudoprecocious puberty. The study aimed at determining variance in two SNPs, I172N and V281L, of CYP2...