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Table 1 Differential diagnosis of 46XY DSD

From: Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review

Clinical presentation Disorder of testicular development Androgen synthesis disorder Androgen receptor mutation
CGD PGD 17β-HSD3 mutation SRD5A2 mutation CAIS PAIS
External genitalia Female Ambiguous Female or ambiguous Ambiguous Female Ambiguous
Gonads Streak gonads Small testicles Small testicles Small to normal testicles Normal Normal
Hypospadias No Yes Yes Yes No Yes
Body hair Sparse Varied Sparse Sparse Sparse Varied
Gynecomastia Yes Yes Yes Yes Yes Yes
Cryptorchidism Yes Yes Yes Yes Yes Yes
  1. CGD complete gonad dysgenesis, PGD partial gonad dysgenesis, CAIS complete androgen insensitivity syndrome, PAIS partial androgen insensitivity syndrome