Ambiguous Genitalia Intersex

True hermaphrodites are rare individuals who have both testicular and ovarian tissues. The cause appears to be mosaicism, with one cell line containing Y chromosome genes. The gonads may be separate or combined as an ovotestis that may be found above or below the inguinal ring. Pseudohermaphrodites are individuals with a normal genetic sex, but an intersex phenotype for hormonal reasons. The development of the male genitalia is under the influence of testosterone produced by the fetal testis. Androgen from another source such as congenital adrenal hyperplasia will result in masculinization of the genetic female. Androgen that is ineffectual, that is, the androgen insensitivity syndrome will result in feminization of the genetic male fetus. Ambiguous genitalia in true and pseudohermaphrodites may present with an inappropriately large or small phallus, failure or inappropriate fusion or the labio-scrotal folds, urethral abnormalities, and inappropriately placed gonads (Fig. 19).

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