ListarArtículos por tema "Trastornos del desarrollo sexual"
Mostrando ítems 1-7 de 7
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5α-Reductase-2 gene mutations in the Dominican Republic .
(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
(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, ... -
Gender identity and hermaphroditism
(Science, 1976) -
Inherited 5α-reductase deficiency in man
(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
(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 ... -
A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.
(Journal of Clinical Endocrinology and Metabolism, 1998)We repor t a novel homozygous mutation of the LH receptor (LHR) gene in three siblings: two 46XY and one 46XX. The 46XY siblings presented with female external genitalia, primary amenorrhea, and lack of breast development. ... -
Urinary steroid metabolites in subjects with male pseudohermaphroditism due to 5α-reductase deficiency
(Wiley, 1985-07)To investigate the enzymatic basis for abnormal steroid metabolism in subjects with male pseudohermaphroditism due to 5α-reductase deficiency, the ring A reduced urinary 5β and 5α metabolites of testosterone, androstenedione, ...