Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia

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dc.contributor.authorTuhan, Hale Unver
dc.contributor.authorCatli, Gonul
dc.contributor.authorAnik, Ahmet
dc.contributor.authorOnay, Huseyin
dc.contributor.authorDundar, Bumin
dc.contributor.authorBober, Ece
dc.contributor.authorAbaci, Ayhan
dc.date.accessioned2019-10-27T20:26:08Z
dc.date.available2019-10-27T20:26:08Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractDuring the first weeks of life, salt-wasting crisis, hyperkalemia, acidosis, hypoglycemia, and shock are the main findings of congenital adrenal hyperplasia (CAH). Pseudohypoaldosteronism type 1 (PHA1) is a rare disease of mineralocorticoid resistance, which is characterized with high aldosterone levels, hyponatremia and hyperkalemia without clinical findings of glucocorticoid deficiency. Patients with PHA1 are often initially diagnosed with CAH; however, it is unusual that a CAH patient is misdiagnosed as PHA1. In this report, we describe two cases with severe salt-losing crisis, hyperkalemia, and mild acidosis, which were initially diagnosed with PHA1, due to the high aldosterone levels along with normal adrenocorticotropic hormone and cortisol levels. However, subsequent investigation and genetic analysis led to the diagnosis of CAH with a homozygous I2 splice mutation in both alleles of the CYP21 gene. With this report, we emphasize that high blood levels of adrenal steroid precursors may cross-react with aldosterone and lead to confusing laboratory results that prevent making the accurate differential diagnosis between CAH and PHA1.en_US
dc.identifier.doi10.1515/jpem-2014-0170en_US
dc.identifier.endpage704en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue05.Junen_US
dc.identifier.pmid25503463en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage701en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2014-0170
dc.identifier.urihttps://hdl.handle.net/11454/42300
dc.identifier.volume28en_US
dc.identifier.wosWOS:000353793000034en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectcongenital adrenal hyperplasiaen_US
dc.subjectcross-reactivityen_US
dc.subjectpseudohypoaldosteronismen_US
dc.titleCross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasiaen_US
dc.typeArticleen_US

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