ambiguous genitalia
External genital appearance that cannot be easily classified as typically male or female at birth.
Full Definition
A condition where the external genital structures of a newborn cannot be readily categorized as clearly male or female based on visual inspection. This occurs due to various disorders of sex development (DSD), including congenital adrenal hyperplasia, androgen insensitivity syndrome, or chromosomal abnormalities. The condition requires immediate multidisciplinary evaluation including pediatric endocrinology, genetics, and psychology. Assessment involves karyotype analysis, hormone measurements, and imaging studies to determine the underlying cause and guide gender assignment decisions. The term is increasingly being replaced with more specific descriptive language in clinical practice.
Usage
Usage note: Use descriptive terms when possible rather than potentially stigmatizing language.
In Context
- "The newborn presented with ambiguous genitalia requiring urgent DSD workup." — Neonatal consultation note
- "Management of ambiguous genitalia requires a sensitive, family-centered approach." — Clinical guideline