Malformations of female and male genitalia
| Genitourinary malformation | Frequency | Reference |
|---|---|---|
| Ambiguous genitalia | 20 (17.1%) | 4 (two cases),19 (two cases),21,24,28,32 (two cases),33,36,39,45 (five cases),51,53,55 |
| Female abnormalities | ||
| Clitoromegaly/prominent clitoris | 21 (36.8%) | 4 (two cases),9,10,11,14,16 (two cases),18,24,28,38,41 (two cases),45 (three cases),49–51,54 |
| Bicornuate uterus | 5 (8.8%) | 4 (two cases),16,36,50 |
| Absent, small, or hypoplastic uterus | 5 (8.8%) | 16, 34, 42, 45, 53 |
| Vaginal agenesis, atresia, aplasia and imperforate vagina | 7 (12.3%) | 9, 16, 24, 32, 36, 37, 41 |
| Synechiae, adhesions or fusion of the labia | 5 (8.8%) | 4 (two cases),11,32,45 |
| Hypoplasia or absence of the labia (majora or minora) | 5 (8.8%) | 9, 14, 19, 49, 51 |
| Rectovaginal fistula or perineal fistula | 5 (8.8%) | 9,20,16 (two cases),28 |
| Persistent cloaca | 2 (3.5%) | 24, 45 |
| Male abnormalities | ||
| Cryptorchidism, unilateral or bilateral | 17 (31.5%) | 3 (two cases),4 (two cases),11,16,17,21,22,26,28,32,36,43,44 (two cases),45 |
| Micropenis | 8 (14.8%) | 3,4 (three cases),21,30,44 (two cases) |
| Phimosis | 4 (3.4%) | 11, 21, 36, 45 |
| Chordee | 3 (5.5%) | 30, 44 |
| Hypospadias | 5 (9.3%) | 4 (two cases),22,27,43 |
| Hypoplastic scrotum and or atypical scrotal raphe | 5 (9.3%) | 16,22,25,44 (two cases) |
| Unspecified abnormalities | 2 (1.7%) | 20, 37 |
| Streak gonads/absent internal organs | 4 (two cases) | |
| Malformed Fallopian tubes | 4 | |
| Hypoplastic ovaries/ovarian cyst | 16, 26, 45 | |
| Large or hypertrophic labia majora | 40 | |
| Hypoplastic external genitalia | 16 (two cases) | |
| Small, hypoplastic clitoris | 36, 37 | |
| 180 degree malrotation of penis | 23 | |
| Macropenis | 16 | |
| Left ovarian gonadoblastoma in situ | 57 | |