Table 2.

Clinical findings of main 46,XY DSD (without adrenal insufficiency).

	46,XY gonadal dysgenesis	NR5A1 deficiency*	Leydig cell hypoplasia	17β-HSD3 deficiency	5α-reductase 2 deficiency	Complete/partial/minimal Androgen resistance
Prevalence	?	?	Very rare	1: 147.000°	? °	1: 20/90.000
Inheritance	Variable	AD	AR	AR	AR	X-linked
Gene	SRY, DHH, etc.	NR5A1	LHR	17β-HSD3	SRD5A2	AR
Chromosome	variable	9q33.3	2p21	9q22	2p23	Xq11–12
External genitalia	Female	Female to male	Female to ambiguous	Female to ambiguous	Female to ambiguous	Female to ambiguous to male
Wolffian structures	No	Variable	No	variable	Yes	No (complete) to variable to male (minimal)
Müllerian structures	Yes	Variable	No	No	No	No
Gonads	Streak	Testes	Testes	Testes	Testes	Testes
Puberty	No	No/virilization	No	Virilization	Virilization	Femminilizatio to virilization
Sex change	No	Sometimes	No	30–50%	~75%	No (complete/minimal) to sometimes (partial)

AD, autosomal dominant; AR, autosomal recessive.

^*No adrenal insufficiency in heterozygous state; adrenal insufficiency is operative in homozygous state.

^°Frequent in some specific populations with a high rate of consanguineous marriage.