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Serum cortisol and cortisone as potential biomarkers of partial 11β-hydroxysteroid dehydrogenase type 2 deficiency

Carvajal Maldonado, Cristián Andrés; Tapia Castillo, Alejandra; Valdivia, Carolina P.; Allende, Fidel; Solari Gajardo, Sandra; Lagos Arévalo, Carlos Fernando; Campino Johnson, María del Carmen; Martínez Aguayo, Alejandro Gregorio; Vecchiola Cárdenas, Andrea Paola; Pinochet, Constanza (2018)

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

Carvajal, Cristian; Tapia, Alejandra; Valdivia, Carolina; Allende, Fidel; Solari, Sandra; Lagos, Carlos; Campino, Carmen; Martínez, Alejandro; Vecchiola, Andrea; Pinochet, Constanza; Godoy, Claudia; Iturrieta, Virginia; Baudrand, Rene; Fardella, Carlos (2018)

Background: 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 ...

Nutritional marginal zinc deficiency disrupts placental 11β-hydroxysteroid dehydrogenase type 2 modulation

Huang, Y. L.; Supasai, S.; Kucera, H.; Gaikwad, N. W.; Adamo, Ana María; Mathieu, Patricia Andrea; Oteiza, Patricia Isabel (Royal Society of Chemistry, 2016-01)

This paper investigated if marginal zinc nutrition during gestation could affect fetal exposure to glucocorticoids as a consequence of a deregulation of placental 11βHSD2 expression. Placenta 11β-hydroxysteroid dehydrogenase ...

Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone

Baquedano, María Sonia; Guercio, Gabriela Viviana; Costanzo, Mariana; Marino, Roxana Marcela; Rivarola, Marco Aurelio; Belgorosky, Alicia (Elsevier Academic Press Inc, 2018-01)

3βHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In enzyme deficiency states, due to recessive loss-of-function HSD3B2 mutations, steroid flux is altered and clinical manifestations result. Deficiency ...

Hypertensive Patients That Respond to Aldosterone Antagonists May Have a Nonclassical 11β-HSD2 Deficiency.

Tapia Castillo, Alejandra; Carvajal Maldonado, Cristián Andrés; Allende, Fidel; Campino Johnson, María del Carmen; Fardella B., Carlos (2017)

Clinical And Molecular Spectrum Of Patients With 17β-hydroxysteroid Dehydrogenase Type 3 (17-β-hsd3) Deficiency [espectro Clínico E Molecular De Pacientes Com Deficiência De 17β-hidroxiesteroide Desidrogenase Tipo 2 (17-β-hsd3)]

Castro C.C.T.S.; Guaragna-Filho G.; Calais F.L.; Coeli F.B.; Leal I.R.L.; Cavalcante-Junior E.F.; Monlleo I.L.; Pereira S.R.F.; e Silva R.B.P.; Gabiatti J.R.E.; Marques-de-Faria A.P.; Maciel-Guerra A.T.; de Mello M.P.; Guerra-Junior G. (, 2012)

Structural Aspects Of The P.p222q Homozygous Mutation Of Hsd3b2 Gene In A Patient With Congenital Adrenal Hyperplasia [aspectos Estruturais Da Mutação Homozigótica P.p222q Do Gene Hsd3b2 Em Um Paciente Com Hiperplasia Congênita Da Adrenal]

Lusa A.L.G.; de Lemos-Marini S.H.V.; Soardi F.C.; Ferraz L.F.C.; Guerra-Junior G.; de Mello M.P. (, 2010)

Regulación de la enzima 11 beta hidroxiesteroide deshidrogenasa tipo 2 [11ß-HSD2] por miRNA y su asociación con hipertensión arterial

Tapia Castillo, Alejandra (Universidad del Desarrollo. Facultad de Medicina, 2018)

Classical apparent mineralocorticoid excess (AME) is a rare recessive disorder, caused by 11β-HSD2 deficiency. AME manifests as low-renin pediatric hypertension, hypokalemia and high cortisol/cortisone (F/E) ratio. The ...

Clinical And Molecular Spectrum Of Patients With 17β-hydroxysteroid Dehydrogenase Type 3 (17-β-hsd3) Deficiency.

Castro, Carla Cristina Telles de Sousa; Guaragna-Filho, Guilherme; Calais, Flavia Leme; Coeli, Fernanda Borchers; Leal, Ianik Rafaela Lima; Cavalcante-Junior, Erisvaldo Ferreira; Monlleó, Isabella Lopes; Pereira, Silma Regina Ferreira; Silva, Roberto Benedito de Paiva E; Gabiatti, José Roberto Erbolato; Marques-de-Faria, Antonia Paula; Maciel-Guerra, Andrea Trevas; Mello, Maricilda Palandi De; Guerra-Junior, Gil (2012)

Structural Aspects Of The P.p222q Homozygous Mutation Of Hsd3b2 Gene In A Patient With Congenital Adrenal Hyperplasia.

Lusa, Letícia Gori; Lemos-Marini, Sofia Helena Valente de; Soardi, Fernanda Caroline; Ferraz, Lucio Fabio Caldas; Guerra-Júnior, Gil; Mello, Maricilda Palandi de (2010)