INCIDÊNCIA E DISTRIBUIÇÃO GEOGRÁFICA DE HIPERPLASIA ADRENAL CONGÊNITA EM GOIÁS ENTRE 2006 A 2012 [PDF]
Revista Educação em Saúde, 2015 Objective: To identify the incidence and geographical distribution of congenital adrenal hyperplasia in the state of Goiás between 2006 and 2012. Methods: Quantitative, explanatory descriptive, documentary study, held at APAE-Anápolis in Goiás.
João Felipe Gomide de Paula Souza +3 more
doaj +3 more sources
Hiperplasia suprarrenal congénita por mutación del gen StAR: revisión de un caso
Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2021 La mutación del gen StAR es la causa de la hiperplasia lipoidea adrenal, una forma grave y muy poco frecuente de hiperplasia suprarrenal congénita. Presentamos el caso de una paciente de sexo femenino que fue derivada a nuestro centro a los 23 días de ...
Nayelly Díaz-Flores +5 more
doaj +1 more source
Jornal de Pediatria, 2019 Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases.
Cristiane Kopacek +8 more
doaj +3 more sources
Hiperplasia adrenal congénita asociada a mutación no descrita en el gen CYP17A1
Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2022 Introducción: La deficiencia de 17?-hidroxilasa / 17,20-liasa es causada por un defecto en el gen CYP17A1 que codifica una enzima que expresa tanto actividad 17?-hidroxilasa como 17,20-liasa en las glándulas suprarrenales y las gónadas.
Carlos E. Builes-Montaño +5 more
doaj +1 more source
Alta freqüência da mutação Q318X em pacientes com hiperplasia adrenal congênita por deficiência da 21-hidroxilase no nordeste do Brasil [PDF]
, 2009 OBJETIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the ...
AGUIAR-OLIVEIRA, Manuel H. +4 more
core +5 more sources
Revista Mexicana de Medicina Familiar, 2023 Se define la hiperplasia suprarrenal congénita como un grupo de enfermedades hereditarias autosómicas recesivas, producto de la alteración o la ausencia de las enzimas necesarias para la síntesis del cortisol en la corteza adrenal.
Beatriz Archundia-Jiménez +1 more
doaj +1 more source
Congenital adrenal hyperplasia: a qualitative study on disease and treatment, doubts, anguishes and relationships (part I) [PDF]
, 2009 OBJECTIVE: To understand the meanings/thoughts of a group of parents, patients and physicians regarding congenital adrenal hyperplasia (CAH), and to evaluate their anguishes, doubts and anxieties.
Kater, Claudio Elias +3 more
core +2 more sources
O espectro das síndromes de hipertensão esteróide na infância e adolescência [PDF]
, 2001 Arterial hypertension is not a privilege of adults. Besides renal and vascular causes, adrenocortical and correlated diseases must be considered when investigating a hypertensive child or adolescent.
Costa-Santos, Marivânia +1 more
core +3 more sources
Development of a radioimmunoassay for serum 21-deoxycortisol and its potential application in the diagnosis of congenital adrenal hyperplasia [PDF]
, 2003 Serum 21-deoxycortisol (21DF) has been considered a useful hormonal marker for the diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD).
Fiet, Jean +5 more
core +3 more sources
Congenital adrenal hyperplasia in the adult women: management of old and new challenges [PDF]
, 2014 Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood.
Costa-Barbosa, Flávia A. +2 more
core +3 more sources