11-beta hydroxylase deficiency

The clinical manifestations of 11-beta-hydroxylase deficiency are virilization, resulting from the overproduction of androgen, and hypertension, stemming from the overproduction of deoxycorticosteroids. 

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Kuribayashi I, Nomoto S, Massa G, Oostdijk W, Wit JM, Wolffenbuttel BH, Shizuta Y, Honke K (2005) Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation pG314R, in one CYPllBl allele, and a chimeric CYP11B2/CYP11B1 in the other allele. Horm Res 63 284-293... 

Menabo S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grotzinger J, Fanelli F, Balsamo A, Riepe FG (2014) Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency functional consequences of four CYPllBl mutations. Eur J Hum Genet 22 610-616... 

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The glucocorticoids mainly influence carbohydrate metabolism and, to a certain extent, protein and lipid metabolism (see Table 14 and Figure 55). The main glucocorticoid is cortisol, with a daily secretion of 15 mg. Cortisol is synthesized through the 11-beta-hydroxylation of 11-deoxy-cortisol. Besides cortisol, the adrenal gland also synthesizes and releases a small amount of corticosterone, whose synthesis from 11-deoxycorticosterone is catalyzed by 11-beta-hydroxylase. A deficiency of 11-beta-hydroxylase causes ... 

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