Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

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dc.contributor.authorCarvajal, Cristian
dc.contributor.authorTapia, Alejandra
dc.contributor.authorValdivia, Carolina
dc.contributor.authorAllende, Fidel
dc.contributor.authorSolari, Sandra
dc.contributor.authorLagos, Carlos
dc.contributor.authorCampino, Carmen
dc.contributor.authorMartínez, Alejandro
dc.contributor.authorVecchiola, Andrea
dc.contributor.authorPinochet, Constanza
dc.contributor.authorGodoy, Claudia
dc.contributor.authorIturrieta, Virginia
dc.contributor.authorBaudrand, Rene
dc.contributor.authorFardella, Carlos
dc.date.accessioned2022-05-18T15:28:10Z
dc.date.available2022-05-18T15:28:10Z
dc.date.issued2018
dc.description.abstractBackground: Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). There is scarce information regarding the phenotypes of subjects carrying heterozygous pathogenic variants in HSD11B2 gene. We investigated if serum cortisol/cortisone (F/E) ratio and cortisone are useful for identifying partial 11βHSD2 deficiency in those heterozygous subjects. Methods: We studied two patients diagnosed with AME and their families carrying either D223N or R213C mutation. We also evaluated 32 healthy control subjects (13 children and 19 adults) to obtain normal references ranges for all measured variables. Case 1: A boy carrying D223N mutation in HSD11B2 gene and Case 2: A girl carrying R213C mutation. We assessed serum F/E ratio and cortisone by HPLC-MS/MS, aldosterone, plasma-renin-activity(PRA), electrolytes, and HSD11B2 genetic analyses. Results: The normal values (median [interquartile range]) in children for serum F/E and cortisone (µg/dl) were 2.56 [2.21-3.69] and 2.54 [2.35-2.88], and in adults were 4.42 [3.70-4.90] and 2.23 [1.92-2.57], respectively. Case 1 showed a very high serum F/E 28.8 and low cortisone 0.46 µg/dl. His mother and sister were normotensives and heterozygous for D223N mutation with high F/E (13.2 and 6.0, respectively) and low cortisone (2.0 and 2.2, respectively). Case 2 showed a very high serum F/E 175 and suppressed cortisone 0.11 µg/dl. Her parents and sister were heterozygous for the R213C mutation with normal phenotype, but high F/E and low cortisone. Heterozygous subjects showed normal aldosterone, PRA, but lower fractional excretion of sodium and urinary Na/K ratio than controls. Conclusion: Serum F/E ratio and cortisone allow to identify partial 11βHSD2 deficiencies, as occurs in heterozygous subjects, who would be susceptible to develop arterial hypertension.es
dc.description.versionVersión publicadaes
dc.identifier.citationCarvajal CA, Tapia-Castillo A, Valdivia CP, Allende F, Solari S, Lagos CF, Campino C, Martínez-Aguayo A, Vecchiola A, Pinochet C, Godoy C, Iturrieta V, Baudrand R, Fardella CE. Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. Am J Hypertens. 2018 Jul 16;31(8):910-918. doi: 10.1093/ajh/hpy051es
dc.identifier.urihttps://doi.org/10.1093/ajh/hpy051es
dc.identifier.urihttp://hdl.handle.net/11447/6100
dc.language.isoenes
dc.subject11βHSD2 deficiencyes
dc.subjectAME syndromees
dc.subjectBlood pressurees
dc.subjectCortisoles
dc.subjectCortisonees
dc.subjectHSD11B2 mutationes
dc.subjectHypertensiones
dc.titleSerum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiencyes
dc.typeArticlees
dcterms.sourceAmerican journal of hypertensiones

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