Results 21 to 30 of about 904 (137)

Bloqueo Completo de la 11 - Beta Hidroxilasa

open access: yesRevista Colombiana de Endocrinología, Diabetes y Metabolismo, 2018
Fragmento Este informe se refiere a la presentación y demostración bioquímica de un caso de Hiperplasia Adrenal Congénita con hipertensión (tipo II) por bloqueo de la 11-Beta Hidroxilasa, en un sujeto de sexo genético femenino.
Bernardo Reyes Leal
doaj   +1 more source

Deficiência combinada de 17α-hidroxilase/17,20 liase devido à mutação p.R96W no gene CYP17 em um paciente brasileiro [PDF]

open access: yes, 2010
Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil.
Auchus, Richard J.   +5 more
core   +3 more sources

Tracking bodies, producing sexes: the insertion of congenital adrenal hyperplasia on newborn screneening

open access: yesMediações: Revista de Ciências Sociais, 2015
The present article seeks to discuss the way through which intersexualities are being produced and managed in a context where new biotechnologies constitute themselves as crucial tools on the process of remodeling bodies and producing subjectivities.
Janaina Freitas, Paula Sandrine Machado
doaj   +1 more source

Programa cubano de pesquisa neonatal de la hiperplasia suprarrenal congénita: una realidad. 2005-2014

open access: yesCiencia y Salud, 2021
Introducción: la hiperplasia suprarrenal congénita (HSC) es el desorden adrenal más común en la infancia y la causa más frecuente de ambigüedad sexual.
Francisco Carvajal Martínez   +6 more
doaj   +1 more source

Search of prostatic tissue in 46,XX congenital adrenal hyperplasia [PDF]

open access: yes
OBJETIVOS: Verificar a ocorrência de tecido prostático em pacientes portadoras da forma clássica de hiperplasia congênita das suprarrenais, com cariótipo 46,XX e analisar a sensibilidade e a especificidade do antígeno prostático específico (PSA) das ...
BARONI, Ronaldo   +9 more
core   +1 more source

HIPERPLASIA SUPRARRENAL CONGÊNITA: SINTOMAS E SEUS DESAFIOS [PDF]

open access: yes, 2023
The objective of the above study is to analyze, according to scientific literature, the main symptoms and preventive measures for diagnosing congenital adrenal hyperplasia.
Carneiro, Vyctor Mont`Alverne Napoleão   +4 more
core   +2 more sources

Perfil característico das atividades 17-hidroxilase e 17,20-liase reveladas por meio do metaboloma de esteroides urinários de pacientes com deficiência de CYP17 [PDF]

open access: yes, 2010
OBJECTIVES: (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiency (cCYP17D); (2) analyze the relative 17α-hydroxylase (17OH) and 17,20-lyase (17,20L) activities in vivo; and (3) comparedata from the two most ...
Auchus, Richard J.   +3 more
core   +3 more sources

Hiperplasia suprarrenal congénita

open access: yesRevista Colombiana de Endocrinología, Diabetes y Metabolismo, 2018
*Este trabajo fue presentado en el IX Congreso Panamericano de Endocrinología, Quito, Diciembre de 1978. Siete niños con Hiperplasia suprarrenal congénita fueron estudiados en un período de 10 años.
Francisco Núñez León   +1 more
doaj   +1 more source

Doença de addison de etiologia auto-imune [PDF]

open access: yes, 1998
Autoimmune Addison's disease is a rare and potentially, fatal endocrinopathy, that can occur either isolated or as part of the types I and II polyglandular autoimmune syndromes (PAS).
Kater, Claudio Elias   +1 more
core   +3 more sources

Heterozigose para mutação no gene CYP21A2 considerada como deficiência de 21-hidroxilase na triagem neonatal [PDF]

open access: yes, 2008
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm ...
Bernardi, Renan Darin   +7 more
core   +3 more sources

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