Nonclassic 11 beta-hydroxylase deficiency: Report of two patients and review

Congenital adrenal hyperplasia (CAH) is well recognized as a disorder which can result in virilization of females, accelerated skeletal maturation and resultant adult short stature in both genders, and, in certain varieties, life-threatening adrenal crisis. Among the enzymatic defects resulting in C AH, nonclassic or partial 11 beta-hydroxylase deficiency is a relatively un common etiology, However, the subtlety with which it can present and the di fficulties associated with its diagnosis can delay its identification and r esult in a significant reduction in adult stature. This paper describes the presentation and evaluation of two children with partial 11 beta-hydroxyla se deficiency, discusses its pathogenesis, and compares the disorder with t he more common varieties of congenital adrenal hyperplasia.