Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is a genetic disorder arising from defective steroidogenesis resulting in glucocorticoid deficiency; the commonest mutation is in the gene encoding 21-hydroxylase. Lifesaving glucocorticoid treatment was introduced in the 1950s and there is now an enlarging cohort of adult patients; however, there is no consensus on management. To address this issue, the Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) was formed in 2003 to stu...

Congenital adrenal hyperplasia (CAH) is a recessively inherited deficiency of cortisol production affecting an estimated 1 in 10 000–20 000 live births. The salt-wasting form, which is found in over half of all children with CAH, may present with a potentially life-threatening crisis in with the newborn period while associated excess androgen production may result in girls being incorrectly assigned as boys at birth. Early detection by newborn screening, combined with cor...