• 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 ...
    • Andrógenos y la evolución de la identidad del género masculino en varones pseudohermafroditas con deficiencia de 5 alfa reductasa 

      Imperato-McGinley, Julianne; Peterson, Ralph E.; Gautier, Teófilo; Sturla, Erasmo (Universidad Nacional Pedro Henríquez Ureña, 1986)
      Se realiza una investigación para determinar la contribución de andrógenos a la formación de la identidad con el género masculino. Se estudian varones pseudohermafroditas quienes tenían disminuida la producción de ...
    • Deficiencias primarias y secundarias de 5 alfa reductasa 

      Imperato-McGinley, Julianne; Peterson, Ralph E.; Gautier, Teófilo (Universidad Nacional Pedro Henríquez Ureña, 1987)
      Se presenta una investigación sobre la detección en la familia dominicana de deficiencias primarias y secundarias de 5 alfa reductasa. Se referencia que en 1974 se realizó el árbol genealógico de 23 familias en las que se ...
    • El Teo que yo conocí 

      Imperato-McGinley, Julianne (Centro de Altos Estudios Humanísticos y del Idioma Español : Universidad Nacional Pedro Henríquez Ureña, 2004)
      Se comentan aspectos de la vida y la personalidad del Dr. Teofilo Gautier. Se hace referencia a las investigaciones realizadas y a sus trabajos de cooperación entre el hospital Robert Reid Cabral y el New York Hospital y ...
    • 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 ...
    • Seudohermafroditismo masculino debido a deficiencia del esteroide 5 alfa reductasa. 

      Gautier, Teofilo; Peterson, Ralph E.; Imperato-McGinley, Julianne; Sturla, Erasmo; Guerrero, Luis (Universidad Nacional Pedro Henríquez Ureña, 1979)
      Se investiga una nueva forma hereditaria de seudohermafroditismo masculino de recién nacidos que presentaron trastornos del cromosoma 46 XY tenían al nacer falo clitoriforme, escroto bífido y seno urogenital. Los testículos ...