Sex Chromosome Abnormalities Are a Major CMA and Chromosome Diagnostic Finding for Ambiguous Genitalia

Background

Ambiguous genitalia refers to external genitalia that cannot be clearly classified as male or female and is commonly caused by Differences of Sex Development (DSDs), arising from disrupted sex differentiation early in development. Timely and accurate diagnosis of DSDs in newborns is important to guide best inform care. However, broad phenotypic variability and genetic heterogeneity often require advanced cytogenomic testing beyond standard chromosome analysis.