A particular phenotype in a girl with aldosterone synthase deficiency

The Journal of Clinical Endocrinology and Metabolism
Tracy A WilliamsDecio Armanini

Abstract

Aldosterone synthase deficiency (ASD) usually presents in infancy as a life-threatening electrolyte imbalance. A 4-wk-old child of unrelated parents was examined for failure to thrive and salt-wasting. Notable laboratory findings were hyperkalemia, high plasma renin, and low-normal aldosterone levels. Urinary metabolite ratios of corticosterone/18-hydroxycorticosterone and 18-hydroxycorticosterone/aldosterone were intermediate between ASD type I and type II. Sequence analysis of CYP11B2, the gene encoding aldosterone synthase (P450c11AS), revealed that the patient was a compound heterozygote carrying a previously described mutation located in exon 4 causing a premature stop codon (E255X) and a further, novel mutation in exon 5 that also causes a premature stop codon (Q272X). The patient's unaffected father was a heterozygous carrier of the E255X mutation, whereas the unaffected mother was a heterozygous carrier of the Q272X mutation. Therefore, the patient's CYP11B2 encodes two truncated forms of aldosterone synthase predicted to be inactive because they lack critical active site residues as well as the heme-binding site. This case of ASD is of particular interest because despite the apparent lack of aldosterone synthase activi...Continue Reading

Citations

Oct 16, 2012·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·E CollinetJ-L Stephan
Jan 1, 2009·The Journal of Clinical Endocrinology and Metabolism·Kristian LøvåsV Krishna K Chatterjee

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