CONGENITAL 11-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY ASSOCIATED WITH JUVENILE HYPERTENSION - CORTICOSTEROID METABOLITE PROFILES OF 4 PATIENTS AND THEIR FAMILIES

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dc.contributor.authorSHACKLETON, CHL
dc.contributor.authorRODRIGUEZ, J
dc.contributor.authorARTEAGA, E
dc.contributor.authorLOPEZ, JM
dc.contributor.authorWINTER, JSD
dc.date.accessioned2025-01-23T19:27:30Z
dc.date.available2025-01-23T19:27:30Z
dc.date.issued1985
dc.description.abstractFour children with 11 .beta.-hydroxysteroid dehydrogenase deficiency are described. All patients had severe hypertension, hypokalemia, and low plasma aldosterone and renin activities. Two of the patients were siblings and 2 were unrelated. The most noticable biochemical feature of these individuals was the extremely low excretion of cortisol metabolites containing on 11-carbonyl group compared to the excretion of the 11 .beta.-hydroxyl containing metabolites. Although this condition is readily diagnosed in affected individuals by urinary steroid analysis, carriers of the defect do not differ from normal in their urinary steroids. Both parents of the affected siblings had normal 11-oxo-steroid/11 .beta.-hydroxysteroid ratios under baseline conditions and the lesions could not be revealed by ACTH administration.
dc.fuente.origenWOS
dc.identifier.eissn1365-2265
dc.identifier.issn0300-0664
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/99733
dc.identifier.wosidWOS:A1985ALM5900002
dc.issue.numero6
dc.language.isoen
dc.pagina.final712
dc.pagina.inicio701
dc.revistaClinical endocrinology
dc.rightsacceso restringido
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleCONGENITAL 11-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY ASSOCIATED WITH JUVENILE HYPERTENSION - CORTICOSTEROID METABOLITE PROFILES OF 4 PATIENTS AND THEIR FAMILIES
dc.typeartículo
dc.volumen22
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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