Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency with skeletal abnormalities.

Abstract

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.

• Authors: K M Ajlouni, M A Arnaout, Y Qoussous
• Journal: Journal of endocrinological investigation (J Endocrinol Invest) Vol. 19 Issue 5 Pg. 316-9 (May 1996) ISSN: 0391-4097 [Print] Italy
• PMID: 8796341 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Adrenal Hyperplasia, Congenital (enzymology, pathology)
• Bone and Bones (abnormalities)
• Child, Preschool
• Humans
• Male
• Metatarsal Bones (abnormalities)
• Puberty, Precocious (etiology)