ListarArtículos por tema "Hiperplasia suprarrenal congénita"
Mostrando ítems 1-2 de 2
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Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases — a new variant of congenital adrenal hyperplasia
(New England Journal of Medicine, 1985-11-07)A six-month-old 46,XY infant with a female phenotype and ambiguous genitalia was evaluated for male pseudohermaphroditism. The principal findings were (1) low basal plasma levels of all measured C19 steroids and their ... -
Mutations in CYP11B1 gene: phenotype-genotype correlations
(Am J Med Genet A ., 2003-10)11beta-hydroxylase deficiency, an autosomal recessive disorder, is the second most common cause of congenital adrenal hyperplasia. We studied four subjects with classic 11beta-hydroxylase deficiency and severe hypertension: ...