Which form of congenital adrenal hyperplasia presents with ambiguous genitalia?

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The female classic form of congenital adrenal hyperplasia (CAH), typically due to 21-hydroxylase deficiency, is characterized by excess adrenal androgens during critical periods of fetal development. This overproduction of male hormones can lead to virilization of female genitalia, resulting in ambiguous genitalia at birth.

In this scenario, the female fetus is exposed to high levels of androgenic hormones, which affect the development of external genitalia, leading to the physical characteristics of both male and female genitalia. This condition is especially evident in cases of severe enzyme deficiency, which is often categorized as the classic form of CAH.

Other forms or presentations of CAH, such as the male classic form or the salt-wasting variants, typically do not present with ambiguous genitalia. Males usually develop normally, while the non-classic form typically has milder symptoms and is less likely to cause genital ambiguity.

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