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The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies
(Sociedade Brasileira de Endocrinologia e Metabologia, 2012-11-01)
FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved ...
Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis
(BioMed Central, 2016-10)
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since ...
21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency
(Walter De Gruyter Gmbh, 2008-05-01)
21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD ...
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level
(Springer, 2020-02)
The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public ...
Cariotipos humanos en sangre periférica, diez años de experiencia en el departamento de citogenética del Centro de Diagnóstico y Estudios Biomédicos de la Facultad de Ciencias Médicas de la Universidad de Cuenca
(Universidad de Cuenca. Facultad de Ciencias Médica, 2012-06)
Introduction. The analysis of the karyotypes
in peripheral blood T lymphocytes obtained
from is an accessible cytogenetic technique,
besides it was the only one available in the
Southern of Ecuador. Studies in Ecuador ...
Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: Detección de dos nuevas mutaciones en Chile
(2007)
Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The ...
Ambigüedad sexual por hiperplasia suprarrenal congénita perdedora de sal por deficiencia de 21-hidroxilasa: Reporte de un caso
(Seguro Social de Salud (EsSalud), 2019-02-25)
Introducción: Los trastornos de la diferenciación sexual por hiperplasia suprarrenal congénita son relativamente frecuentes y demandan una adecuada atención que garantice tanto un diagnóstico rápido como un manejo de los ...
Hermafroditismo verdadeiro na espécie canina
(Universidade Federal do Rio Grande do Sul, 2017)