Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency with skeletal abnormalities.
Classic congenital 11-beta-hydroxylase deficiency is a relatively uncommon cause of congenital adrenal hyperplasia and is characterized by virilization and often hypertension. The association of skeletal abnormalities (short metatarsal bone) and pulmonary stenosis in a patient with 11-beta-hydroxylase has been reported by our group. In this report, three new patients with congenital adrenal hyperplasia due to a defect in 11-beta-hydroxylase enzyme with short fourth metatarsals are described. Gynecomastia was noted in one patient. The relative rarity of 11-beta-hydroxylase deficiency and the association of skeletal abnormalities suggest the possibility that this is more than a mere coincidental finding.
Ajlouni
K M
KM
Department of Internal Medicine, Faculty of Medicine, Jordan University of Science and Technology, Irbid.
Arnaout
M A
MA
Qoussous
Y
Y
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D008682:Metatarsal Bones / Q000002:abnormalities; D011629:Puberty, Precocious / Q000209:etiology