P676: Sex chromosome abnormalities are a major CMA and chromosome diagnostic finding for ambiguous genitalia
Abstract
Ambiguous genitalia refers to a condition in which the external genital structures are not distinctly identifiable as male or female. One of the major underlying causes of ambiguous genitalia are differences of sex development (DSDs), which arise from disruptions in one or more phases of sexual differentiation—typically during the first trimester—due to chromosomal, gonadal, or anatomical inconsistencies. DSDs represent medical, social, and sometimes legal emergencies in newborns, as timely sex assignment and clinical management decisions are critical.
Fields of Study & Subjects
Sexual Differentiation and Disorders
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Prenatal Screening and Diagnostics
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104166–104166
- Publication date
- 1 January 2026
- Language
- EN