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Atlas of Genetic Diagnosis and Counseling pp 77–86Cite as

Ambiguous Genitalia

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Most cases of ambiguous genitalia are discovered at birth, occurring approximately once in every 1,000 live births. Genital ambiguity usually is due to virilization of genetic females or undervirilization of genetic males who have normal gonads. Less common are disorders of sexual differentiation that involve gonadal dysgenesis (Chi et al. 2008).

In females, congenital adrenal hyperplasia (CAH), specifically 21-hydroxylase deficiency, is the most common condition leading to inappropriate virilization. In males, defects in testosterone production, metabolism, or peripheral action can lead to ambiguous genitalia. Later presentations of ambiguous genitalia often include previously unrecognized genital ambiguity, inguinal hernia in a girl (e.g., complete androgen insensitivity), delayed or incomplete puberty, primary amenorrhea or virilization in a girl, breast development in a boy, and gross or cyclic hematuria in a boy (unrecognized virilized 46,XX with CAH) (Lee et al. 2006).

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Ambiguous Genitalia. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_10

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