Abstract
Ambiguous genitalia is a birth defect where the external genitals do not have the typical appearance of either a boy or girl. An 8-week-old infant presented with persistent vomiting, failure to thrive, and genital ambiguity. On the basis of clinical presentation, a salt-losing variety of congenital adrenal hyperplasia (CAH) was suspected. Hormonal levels were tested and 3 beta-hydroxysteroid dehydrogenase II (HSD3B2) deficiency, a rare CAH variant was suspected. This was confirmed by molecular analysis of the HSD3B2 gene from the affected baby. It revealed the presence of the homozygous P222Q mutation which was found to be heterozygous in both parents.
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