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 CAH, nonclassic or partial 11 beta-hydroxylase deficiency is a relatively uncommon etiology. However, the subtlety with which it can present and the difficulties associated with its diagnosis can delay its identification and result in a significant reduction in adult stature. This paper describes the presentation and evaluation of two children with partial 11 beta-hydroxylase deficiency, discusses its pathogenesis, and compares the disorder with the more common varieties of congenital adrenal hyperplasia.
Clark
P A
PA
Department of Pediatrics, University of Louisville, KY 40292, USA.
D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology*; D000324:Adrenocorticotropic Hormone; D000328:Adult; D002648:Child; D003350:Cortodoxone / Q000097:blood; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D008297:Male
D000324:Adrenocorticotropic Hormone; D003350:Cortodoxone; D006854:Hydrocortisone