Abstract
The patient with pseudohermaphroditism has sex chromosomes and gonads characteristic of one sex but some phenotypic features characteristic of each sex. In male pseudohermaphroditism, the genital differentiation of each individual is different as compared to normal males with 46,XY chromosome and the presence of testes. Male pseudohermaphroditism is generally classified into 2 categories, 1) defects in testicular activity including testicular regression syndrome, Leydig cell hypoplasia, abnormal androgen biosynthesis such as 3β-hydroxysteroid dehydrogenase deficiency or 17α-hydroxylase deficiency, and 2) defects in androgen action. The second category includes 5α-reductase deficiency (pseudovaginal perineoscrotal hypospadias) and androgen insensitivity (or resistance) syndrome. Formerly, the severest type of the androgen insensitivity syndrome was called testicular feminization syndrome.
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