Abstract
Classic congenital 11-β-hydroxylase deficiency is a relatively uncommon cause of congenital adrenal hyperplasia andis characterized by virilization and often hypertension. The association of skeletal abnormalities (short metatarsal bone) and pulmonary stenosis in a patient with 11-β-hydroxylase has been reported by our group. In this report, three new patients with congenital adrenal hyperplasia due to a defect in 11 -β-hydroxylase enzyme with short fourth metatarsals are described. Gynecomastia was noted in one patient. The relative rarity of 11-β-hydroxylase deficiency and the association of skeletal abnormalities suggest the possibility that this is more than a mere coincidental finding.
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White P.C., New M.1, Dupont B. Congenital adrenal hyperplasia (parts I and II). N. Engl. J. Med. 316: 1519, 1987.
Eberlein W.R., Bongiovanni A.M. Congenital adrenal hyperplasia with hypertension: unusual steroid in blood and urine. J. Clin. Endocrinol. Metab. 15: 1531, 1955.
Eberlein W.R., Bongiovanni A.M. Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia. J. Biol. Chem. 223: 85, 1956.
Rosler A., Leiberman E., Sack J. Landau H., Benderly A., Moses S.W., Cohen T. Clinical variability of congenital adrenal hyperplasia due to 11-β-hydroxylase deficiency. Horm. Res. 16: 133, 1982.
Ajlouni K., El-Zaheri M., Habbab M., Qoussous Y., El-Khateeb M. Adrenogenital syndrome due to 11-β-hydroxylase deficiency with skeletal abnormalities and pulmonary stenosis. J. Endocrinol. Invest. 7: 129, 1984.
Cope C.L, Loizou S. Deoxyxorticosterone excretion in normal hypertensive and hypokalemic subjects. Clin. Sci. Mol. Med. 48: 97, 1975.
Cope CL. Loizou S. Simplification of urinary aldosterone measurement by radioimmunoassay. J. Clin. Pathol. 26: 628, 1973.
Brautbar N.N., Ben-David M.M. Adrenogenital syndrome (11-β-hydroxylase deficiency) with hyperprolactineamia: reversal by glucocorticoid administration. Arch. Intern. Med. 137: 1608, 1977.
Zachmann M., Prader A. Gynecomastia with congenital virilizing Adrenal hyperplasia (11-β-hydroxylase deficiency) (letter). J. Pediatr. 87: 839, 1975.
Rosier A. Leiberman A. Enzymatic defects of steroidogenesis: 11-β-hydroxylase deficiency congenital adrenal hyperplasia. Pediatr. Adolesc. Endocrinol. 13: 47, 1984.
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Ajlouni, K.M., Arnaout, M.A. & Qoussous, Y. Congenital adrenal hyperplasia due to 11 -β-hydroxylase deficiency with skeletal abnormalities. J Endocrinol Invest 19, 316–319 (1996). https://doi.org/10.1007/BF03347869
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DOI: https://doi.org/10.1007/BF03347869