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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. ...
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 ...
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, ...
Gender identity and hermaphroditism
(Science, 1976)
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 ...
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, ...
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 ...