Listar Artículos por autor "Imperato-McGinley, Julianne"
Mostrando ítems 1-7 de 7
-
Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5α-reductase deficiency
Imperato-McGinley, Julianne; Peterson, Ralph E.; Gautier, Teofilo; Sturla, Erasmo (N Engl J Med, 1979)To determine the contribution of androgens to the formation of male-gender identity, we studied male pseudohermaphrodites who had decreased dihydrotestosterone production due to 5α-reductase deficiency. These subjects were ... -
Gender identity and hermaphroditism
Imperato-McGinley, Julianne; Peterson, Ralph; Gautier, Teófilo (Science, 1976) -
Hormonal evaluation of a large kindred with complete androgen insensitivity: evidence for secondary 5α-reductase deficiency.
Imperato-McGinley, Julianne; Peterson, Ralph E.; Gautier, Teófilo; Cooper, George; Danner, Robert; Arthur, Ann; Morris, Patricia l.; Sweeney, William j.; Shackleton, Cedric (The Journal of Clinical Endocrinology & Metabolism, 1982-05)Seventeen individuals from a pedigree with complete androgen insensitivity, [testicular feminization (TF)] are presented. Their hormonal evaluation was compared with those of normal males and male pseudohermaphrodites with ... -
Inherited 5α-reductase deficiency in man
Imperato-McGinley, Julianne; Gautier, Teófilo (ScienceDirect, 1986)Study of the syndrome of 5α-reductase deficiency in man has elucidated the importance of testosterone conversion to dihydrotestosterone in sexual differentiation of the male fetus. Insights into specific actions for ... -
Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases — a new variant of congenital adrenal hyperplasia
Peterson, Ralph E.; Imperato-McGinley, Julianne; Gautier, Teófilo; Shackleton, Cedric (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
Zhu, Yuan-Shan; Cordero, Juan J; Can, Selcuk; Cai, Li-Qun; You, Xueke; Herrera, Cecilia; Defilló-Ricart, Mariano; Shackleton, Cedric; Imperato-McGinley, Julianne (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: ... -
Reversibility of catecholamine-induced dilated cardiomyopathy in a child with a pheochromocytoma
Imperato-McGinley, Julianne; Gautier, Teófilo; Ehlers, Kathryn; Zullo, Michael A.; Goldstein, David S.; Vaughan, Darracott Jr. (N Engl J Med, 1987-03-26)Patients with a severe, dilated cardiomyopathy with congestive heart failure have a poor prognosis unless a correctable cause can be identified. Even when a cause is found, the degree of reversibility of myocardial injury ...