Chapter 174 Sexual Ambiguity
INTRODUCTION
Description: Structural abnormalities present at birth may make the assignment of an appropriate sex of rearing (gender) difficult or impossible (sexual ambiguity). The evaluation of these infants represents both a social and medical emergency because life-threatening conditions may be present.
ETIOLOGY AND PATHOGENESIS
Causes: Enzyme defects (5α-reductase, 11β- 17α-, or 21-hydroxylase deficiencies), androgen insensitivity syndrome, intrauterine androgen exposure. (Most patients with ambiguous genitalia prove to be androgenized females with adrenal hyperplasia.) Cases are often placed into one of four categories: female pseudohermaphroditism, male pseudohermaphroditism, dysgenetic gonads (including true hermaphroditism), and true hermaphroditism (rare).
CLINICAL CHARACTERISTICS
DIAGNOSTIC APPROACH
Differential Diagnosis
• Congenital adrenal hyperplasia (may be life-threatening—must be first consideration in any newborn with ambiguous genitalia or male babies with cryptorchidism; if gonads are not palpable, adrenal hyperplasia must be presumed, and treated, until disproved).
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