Corticosterone methyl oxidase deficiency type I with normokalemia in an infant.

We described a Turkish patient with aldosterone synthase deficiency presenting with failure to thrive and salt-wasting but with normal potassium levels in infancy. Urinary steroid characteristics were compatible with CMO I deficiency. Diagnosis of aldosterone synthase deficiency was confirmed by mutational analysis of the CYP11B2 gene, which identified the patient as homozygous for two mutations c.788T>A (p.Ile263Asn) and c.1157T>C (p.Val386Ala). Family genetic study revealed the mother was heterozygous for c.788T>A and homozygous for c.1157T>C and that the father was heterozygous for both c.788T>A and c.1157T>C. To the best of our knowledge, this is only the second Turkish case with a confirmed molecular basis of Type 1 aldosterone synthase deficiency. This case is also significant in showing that spot urinary steroid analysis can assist in diagnosis and that hyperkalemia is not necessarily part of the disease. PMID: 27125267 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research