Genital asymmetry

Genital asymmetry strongly suggests mixed gonadal dysgenesis. Mixed gonadal dysgenesis occurs due to Y chromosome mosaicism (most commonly a 45,X/46,XY karyotype), typically with a descended, partially dysgenetic testis on 1 side (usually the right), a streak gonad with retained müllerian remnants on the other side, and atypical genital appearance, often with asymmetry.

• Clitorophallus is much larger than a typical clitoris but short for a penis.
• Scrotal hypospadias (with single elongated orifice for urethra and vagina) and urogenital sinus (due to incomplete fusion of the genital plate and lack of separation of the urethra from the vagina).
• Partially fused labioscrotal folds, with minimal rugation (wrinkling) or pigmentation.
• Gonad in the labioscrotal fold on the right but not on the left.