Table 3.

Summary of case reports with SOX9/upstream duplication.

No	Paper	N	Age at presentation	Presenting complaint	Histology	Genetics	Comments
1	Huang et al. (6)	1	Infant	Ambiguous genitalia	Not performed	SOX9 duplication	–
2	Kojima et al. (7)	5	Infant	Ambiguous genitalia	Bl Wolffian structures + Germinal aplasia, Sertoli and Leydig cells + No ovarian tissue/uterus/tubes	SOX9 upregulation and DAX1 duplication	Sporadic cases
3	Cox et al. (8)	3	Adult	Infertile	Leydig, Sertoli cells + atrophies seminiferous tubulesNo spermatogenesis	~178 kb duplication 600 kb upstream of SOX9	3 members (2 brothers and paternal uncle) from a family including a 46,XY father who carried the duplication
4	Vetro et al. (9)	2	Adult	Infertile	Germinal cell aplasia	96 kb triplication 500 kb upstream of SOX9	Brothers
5	Benko et al. (10)	4	Birth	Ambiguous genitalia	Case1: ovotestis and fallopian tubes	Case 1: ~605–695 kb duplication 353 kb upstream of SOX9	All 3 were sporadic cases
					Case 2: L ovary, fallopian tubes, rudimentary vagina and uterus	Case 2: ~148 kb duplication −595 to −447 kb upstream of SOX9	Case 2: duplication paternally inherited. Duplication shared by two 46,XY brothers and not the sister
					Case 3: ovotestis, primordial follicles, seminiferous tubules, Sertoli cells, fallopian tube +	Case 3 and 4: ~762–780 kb duplication ~508 kb upstream of SOX9	Case 3 and 4: Brothers inherited duplication from 46,XY father and 46,XY grandfather
6	Xiao et al. (11)	1	Adult	Infertile	Not reported	~74 kb duplication ~510–584 kb upstream of SOX9	–
7	Lee et al. (12)	1	4 years	Small testis	duplication upstream of SOX9	SOX9 duplication	–
8	Kim et al. (13)	3	Case1: 25 years	Azoospermia	Not reported	143 kb duplication ~516–659 kb upstream of SOX9	–
			Case 2: At birth	Ambiguous genitalia	L ovary, fallopian tubes+, R ovotestis primitive seminiferous tubules	Case 2: ~444 kb duplication ~259–703 kb upstream of SOX9	Paternally inherited
			Case 3: At birth	Ambiguous genitalia	R ovary, L dysgenic testis/ovotestis; vagina, rudimentary uterus +	Case 3: 480 kb duplication 264–744 kb upstream of SOX9	–
9	Hyon et al. (14)	3	Adult	Infertile	Case 1 and 2: atrophic seminiferous tubules containing only Sertoli cells suggestive of testicular dysgenesis, Leydig cell hyperplasia; No spermatogenesis	Case 1: 83 kb duplication ~694 kb upstream of SOX9Case 2: 83 kb duplication ~694 kb upstream of SOX9Case 3: 140 kb duplication ~694 kb upstream of SOX9	Case 1 and 2 were brothers
10	Vetro et al. (15)	2	Case 1: Adult	Infertile	N/A	Duplication upstream of SOX9	–
			Case 2: Infant	Ambiguous genitalia	Ovotestis, numerous oocytes, pre-pubertal seminiferous tubules	Duplication upstream of SOX9
11	Our Case	1	Adult	Mass in L testis	Ovotestis, hemorrhagic corpus luteum and corpus albicans, primordial follicles, Sertoli cell nodules, seminiferous tubules with no spermatogenesis	Duplication upstream of SOX9