Table 5.

NR5A1, NR0B1 and WT1: Genotype and clinical and gonadal characteristics of the patients with SRY-negative 46,XX Testicular and Ovotesticular DSD reported in the literature.

Gene	Molecular findings	Diagnosis	External genitalia	Gonadal histology	Reference
NR5A1	c.274C>T, p.Arg92Trp	46,XX Testicular DSD	Atypical	Testes (Bilateral)	Domenice S, 2016 (138)
	c.274C>T, p.Arg92Trp	46,XX Ovotesticular DSD 46,XX Testicular DSD 46,XX Testicular DSD 46,XX Testicular DSD	F1(n=2): Atypical F2(n=1): Male, micropenis F3(n=1): Male, micropenis F4(n=1): Male, hypospadias	F1(n=2): Ovotestis (Bilateral) F2(n=1): ND F3(n=1): ND F4(n=1): Dysgenetic testis (Bilateral)	Bashamboo A, 2016 (139)
	c.274C>T, p.Arg92Trp	46,XX Ovotesticular DSD 46,XX DSD Testicular	P1: Atypical P2: Male	P1: Testis/ovotestis P2: Testis (Bilateral)	Igarashi M, 2016 (140)
	c.274C>T, p.Arg92Trp	46,XX Testicular DSD 46,XX Ovotesticular DSD 46,XX Testicular DSD	P1: Female, clitoromegaly P2: Atypical P3: Male	P1: Testis/streak P2: Ovotestis bilateral P3: Testis (Bilateral)	Baetens D, 2016 (141)
	c.275G>A, p.Arg92Gln	46,XX Ovotesticular DSD	Atypical	P1: Ovotestis (Bilateral)	Swartz JM, 2016 (142)
	c.274C>T, p.Arg92Trp	46,XX DSD	Atypical	ND	Takasawa K, 2017 (143)
	c.274C>T, p.Arg92Trp	46,XX Testicular DSD	P1: Male, non-palpable gonads	P1: ND	Knarston IM, 2019 (144)
	c.274C>T, p.Arg92Trp	46,XX Ovotesticular DSD	P2: Atypical	P2: Ovotestis (Bilateral)
	c.274C>T, p.Arg92Trp	46,XX Testicular DSD	P3: Atypical	P3: ND
	c.779C>T, p.Ala260Val	46,XX Ovotesticular DSD	P4: Atypical	P4: Ovotestis/ovary
	c.274C>T, p.Arg92Trp	46,XX Testicular DSD	Atypical	Testes (Bilateral)	Askari M, 2020 (145)
NR0B1	80 kb microdeletion removing the regulatory and the NR0B1 sequences	46,XX Ovotesticular DSD	Atypical	Ovotestis (Bilateral)	Dangle P, 2017 (146)
WT1	c.1453_1456del, p.Arg485Glyfs*14	46,XX Testicular DSD	Atypical	Testis (bilateral)	Gomes NL, 2019 (136)
	p. Arg495Gly	46,XX Testicular DSD	P1: Atypical	P1: Dysgenetic testis (bilateral)	Eozenou C, 2020 (137)
	p.Pro481Leufs*15	46,XX Testicular DSD	P2: Atypical	P2: Dysgenetic testis (bilateral)
	p.Arg495Gln	46,XX Testicular DSD	P3: Atypical	P3: Dysgenetic testis (bilateral)
	p.Arg495Gln	46,XX Ovotesticular DSD	P4: Atypical	P4: Ovotestis (bilateral)
	p.Arg495Gln	46,XX Ovotesticular DSD	P5: Atypical	P5: Ovotestis (bilateral)
	p.Ser478Thrfs*17	46,XX Ovotesticular DSD	P6: Atypical	P6: ND
	p.Lys491Glu	46,XX Testicular DSD	P7: Male	P7: Testis (bilateral)
	c.1437 A>G	46,XX DSD	Atypical	ND	Sirokha D, 2021 (147)
	p.Arg495Gln	46,XX Testicular DSD	Atypical	Testis (bilateral)	Kirino S, 2023 (148)

ND, not described; P, Patient; F, Family.