A male infant was noted to have severe hypospadias and ambiguous genitalia at birth. By one week of age, he began vomiting after even small feedings. An evaluation disclosed no evidence of maternal or fetal infection or prenatal exposure to toxins. On examination, he had slightly dysmorphic facies and axial and appendicular hypotonia. A diagnostic test was performed.
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Stoler et al. (2004) studied this question.
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