Üstyol, AlaAtabek, Mehmet EmreTaylor, NormanYeung, Matthew Chun-WingChan, Angel O. K.2020-01-182020-01-182016Üstyol, A., Atabek, M. E., Taylor, N., Yeung, M. C., Chan, A. O. K. (2016). Corticosterone methyl oxidase deficiency type 1 with Normokalemia in an infant. Journal of Clinical Research in Pediatric Endocrinology, 8, 3, 356-359.1308-57271308-5735https://app.trdizin.gov.tr/makale/TWpBeU9ESXhNUT09/corticosterone-methyl-oxidase-deficiency-type-1-with-normokalemia-in-an-infanthttps://hdl.handle.net/20.500.12452/1370WOS:000385025700017PubMed ID:27125267Isolated 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<A (p.Ile263Asn) and c.1157T<C (p.Val386Ala). Family genetic study revealed that the mother was heterozygous for c.788T<A and homozygous for c.1157T<C and 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 with the diagnosis and that hyperkalemia is not necessarily part of the disease.eninfo:eu-repo/semantics/openAccessEndokrinoloji ve MetabolizmaCorticosterone methyl oxidaseSalt wastingCyp11b2 geneFailure to thriveArticle8335635927125267Q2WOS:000385025700017Q310.4274/jcrpe.2824