S.No Case  # Clinical Condition Age External Genitalia Social Sex SRY Karyotype 01 SRY-02 Mullerian dysgenesis 1 M Ambiguous UD -ve 46, XX 02 SRY-13 Testicular feminization syndrome 11 Y Ambiguous F - ve 46,XY 03 SRY-14 Primary amenorrhea 37 Y Ambiguous F + ve 46, XY 04 SRY-12 Primary amenorrhea 20 Y Ambiguous F +ve 46, XY 05 SRY-18 AIS 15 Y Ambiguous F +ve 46, XX 06 SRY-19 Clitoromegaly 8 Y Ambiguous F +ve 46,XY 07 SRY-24 AIS 16 Y Ambiguous F -ve 46,XX 08 SRY-31 AIS 36 Y Ambiguous F +ve 46,XY 09 SRY-36 Male Pseudohermaphroditism 16Y Ambiguous F +ve 46,XY 10 SRY-46 Edward’s syndrome 1M Ambiguous UD -ve 47, XX 11 SRY-21 CAH 1M Ambiguous UD -ve 46, XX 12 SRY-34 CAH 22 D Ambiguous UD +ve 46, XY 13 SRY-16 CAH 16 D Ambiguous UD -ve 46, XX 14 SRY-39 CAH 1M Ambiguous UD +ve 46, XY 15 SRY-05 Aphallic 3M Ambiguous UD +ve 46, XY 16 SRY-44 CAH 15 D Ambiguous UD -ve 46, XX 17 SRY-31 Cryptochidism 1 Y Ambiguous  UD +ve 46, XY

F: Female, UD: Undetermined, CAH: Congenital Adrenal Hyperplasia, AIS: Androgen Insensitivity Syndrome, M: Months, Y: Years, D: Days

Table 2: Distribution of Clinical, Molecular and Cytogenetic findings of ambiguous patient groups.