Ambiguous Genitalia
photo by Janelle Aby, MD
In any case where the genitalia are ambiguous, a work-up to determine gender and the underlying cause of the ambiguity should begin immediately. These infants should be initally observed in the NICU so that any electrolyte abnormalities can be identified and treated rapidly, and appropriate specialists involved (e.g. endocrine, genetics, urology). Circumcision is absolutely contraindicated when genital ambiguity exists. This particular infant was an under-virilized male with hypospadias, micropenis, and bifid scrotum (testes were present bilaterally), but this same appearance has been seen in girls with congenital adrenal hyperplasia.
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