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Hormonal evaluation of a large kindred with complete androgen insensitivity: evidence for secondary 5α-reductase deficiency.
(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
(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
(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: ...