Listar Artículos por autor "Shackleton, Cedric"
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5α-Reductase-2 gene mutations in the Dominican Republic .
Cai, LiQun; Zhu, Yuan Shan; Katz, Melissa D.; Herrera, Cecilia; Baéz, José; Defilló Ricart, Mariano; Shackleton, Cedric; Imperato McGinley, J. (Journal of Clinical Endocrinology and Metabolism, 1996)Male pseudohermaphroditism due to 5α-reductase deficiency was clinically and biochemically described in a large Dominican kindred of 23 families with 38 affected subjects in 1974. Recently, the 5α-reductase-2 gene defect ... -
Decreased Urinary C19 and C21 Steroid 5α-Metabolites in Parents of Male Pseudohermaphrodites with 5α- Reductase Deficiency: Detection of Carriers
Imperato-Mcginley, Julianne; Peterson, Ralph E.; Gautier, Teófilo; Arthur, Ann; Shackleton, Cedric (The Journal of Clinical Endocrinology & Metabolism, 1985-05-01)The urinary 5β/5α ring A-reduced metabolites of C19 and C12 steroids from obligate carrier parents of male) pseudohermaphrodites with 5a-reductase deficiency were analyzed by gas chromatography. Etiocholanolone/androsterone, ... -
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 ... -
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: ...