Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant

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dc.authoridMehmet Emre Atabek: 0000-0002-2242-9401en_US
dc.contributor.authorÜstyol, Ala
dc.contributor.authorAtabek, Mehmet Emre
dc.contributor.authorTaylor, Norman
dc.contributor.authorYeung, Matthew Chun-Wing
dc.contributor.authorChan, Angel O. K.
dc.date.accessioned2020-01-18T21:02:56Z
dc.date.available2020-01-18T21:02:56Z
dc.date.issued2016
dc.departmentNEÜ, Meram Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalığı Anabilim Dalıen_US
dc.descriptionWOS:000385025700017en_US
dc.descriptionPubMed ID:27125267en_US
dc.description.abstractIsolated 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.en_US
dc.identifier.citationÜstyol, 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.en_US
dc.identifier.doi10.4274/jcrpe.2824en_US
dc.identifier.endpage359en_US
dc.identifier.issn1308-5727en_US
dc.identifier.issn1308-5735en_US
dc.identifier.issue3en_US
dc.identifier.pmid27125267en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage356en_US
dc.identifier.urihttps://app.trdizin.gov.tr/makale/TWpBeU9ESXhNUT09/corticosterone-methyl-oxidase-deficiency-type-1-with-normokalemia-in-an-infant
dc.identifier.urihttps://hdl.handle.net/20.500.12452/1370
dc.identifier.volume8en_US
dc.identifier.wosWOS:000385025700017en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US]
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectEndokrinoloji ve Metabolizmaen_US
dc.subjectCorticosterone methyl oxidaseen_US
dc.subjectSalt wastingen_US
dc.subjectCyp11b2 geneen_US
dc.subjectFailure to thriveen_US
dc.titleCorticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infanten_US
dc.typeArticleen_US

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