Congenital adrenal hyperplasia – Quick review chart

Congenital adrenal hyperplasia -Inherited autosomal recessive disorder which affects the enzymes that enable conversion of cholesterol to cortisol at the adrenal glands

autosomal recessive disorders that disrupt encoding enzymes in the adrenal steroidogenesis production of glucocorticoids , mineralocorticoids and sex steroids by the adrenal gland is impaired clinical manifestations depend upon which specific mutation has taken place ( leading to deficiency or excess ) there is an either deficient or excess production of sex steroids and this can alter the normal development of primary or secondary sex characteristics in some of those affected incidence of 1 : 14 000 to 1 : 18 000 worldwide three specific enzyme deficiencies are associated with virilization of affected females

21- hydroxylase deficiency ( 21-OHD ) is the most common form ( over 95 % ) due to mutation in the 21-hydroxylase ( CYP21A2 ) gene located within the HLA class III region of chromosome 7

3-β-hydroxysteroid dehydrogenase associated with mutation in the 3 β-hydroxysteroid dehydrogenase gene ( HSD3B2 )

11 -β Hydroxylase deficiency with mutation in the 11 β-hydroxylase ( CYP11B1 gene )

found in all populations location & extent of gene mutations or deletions lead to complex allelic variations there is an...