Aldosterone synthase deficiency

Table 5.3.11 Steroid excretion and diagnostic ratios in infants with pseudohypoaldosteronism (PHA) and aldosterone synthase deficiency (ASD)...

White PC (2004) Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol 217 81-87... 

Curnow KM (2003) A compound heterozygote case of type II aldosterone synthase deficiency. J 2083. Clin Endocrinol Metab 88 2518-2526 Nguyen HH, Hannemann F, Hartmann MF, Malu-nowicz EM, Wudy SA, Bernhardt R (2010) Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I 2084. functional characterization and structural analyses. 

Patients with 11/1-hydroxylase deficiency present with features of androgen excess, including masculinization of female newborns and precocious puberty in male children. There are two human isozymes that are responsible for cortisol and aldosterone synthesis, respectively. The CYP11B1 enzyme (p45011B) converts DOC to corticosterone (B) and 11-deoxycortisol (S or 11-dihydrocortisol) to cortisol (F). It is also capable of 18-hydroxylating DOC but cannot convert to aldosterone. The latter transformation is carried out by CYP11B2 (also known as aldosterone synthase), which encompasses activity for 18-hydroxylation and subsequent 18-oxidation. When CAH is associated with hypertension, deficient lljS-hydroxylase (CYP11B1) is suspected at this time more than ten mutations have been defined in affected individuals [103]. 

Portrat, S., P. Mulatero, K.M. Curnow, J.L. Chaussain, Y. Morel, and L. Pascoe (2001). Deletion hybrid genes, due to unequal crossing over between CYPllBl (113-hydroxylase) and CYP11B2 (aldosterone synthase) cause steroid 113-hydroxylase deficiency and congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 86, 3197-3201. 

Pascoe, L., K.M. Curnow, L. Slutsker, A. Rosier, and PC. White (1992). Mutations in the human CYPUB2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc. Natl. Acad. Sci. USA 89, 4996-5000. 

Peter M, Dubuis JM, Sippell WG (1999) Disorders of the aldosterone synthase and steroid 1 p-hydroxylase deficiencies. Horm Res 51 211-222 Nimkam S, New MI (2008) Steroid 11/ff-hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrin Metab 19 96-99 White PC (2011) Congenital adrenal hyperplasia owing to lljS-hydroxylase deficiency. Adv Exp Med Biol 707 7-8... 

Paseoe L, Cumow K, Slutsker L, Rosier A, White PC (1992) Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone meth-lyoxidase II deficiency. Proc Natl Acad Sci U S A 89 4996-5000... 

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