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Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant
(2016) Üstyol, Ala; Atabek, Mehmet Emre; Taylor, Norman; Yeung, Matthew Chun-Wing; Chan, Angel O. K.
Isolated aldosterone synthase deficiency may result in life-threatening saltwasting and failure to thrive. The condition involves hyperkalemia accompanying hyponatremia. Two types of aldosterone synthase deficiency may be observed depending on hormone levels: corticosterone methyl oxidase type 1 (CMO 1) and CMO 2. Herein, we describe a Turkish infant patient with aldosterone synthase deficiency who presented with failure to thrive and salt wasting but with normal potassium levels. 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