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

Table 1 Differential diagnosis of 46XY DSD

Clinical presentation	Disorder of testicular development		Androgen synthesis disorder		Androgen receptor mutation
Clinical presentation	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

CGD complete gonad dysgenesis, PGD partial gonad dysgenesis, CAIS complete androgen insensitivity syndrome, PAIS partial androgen insensitivity syndrome

ISSN: 1471-2482