Parameters | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
Age (years) | M-30 | M-19;M-26 (histology) | M-19 months | M-30 months | M-11 |
Height | 165 cm | 167.5 cm | 75 cm | 87.8 cm (11.8 kg) | 148 cm (42 kg) |
Penis size | | 10.2 cm long; 2.6 cm wide | 3.4 cm long | 32 mm long; 13 mm wide | 5 cm |
Testicular size | ~ 5 mL | ~6mL | right testicle appear smaller than left testicle | | 4 mL |
Genitals and testes | | scrotal hypoplasia; retractile testes; histology: atrophic changes with loss of normal hypoplastic scrotum; spermatogenesis; thickening and hyalinization of the tubular basal lamina and diminished number of interstitial cells; normal spermatic cords | | cryptochidism; hypospadias | moderate coronal hypospadias |
Secondary sexual characteristics | normal | Tanner stage 5 pubic hair and penile development with small testes; onset age 13 years | NA | NA | |
Develop- mental issues | | gender dysphoria from 6 years; referred to behavioral therapist | microcephaly; developmental delay; growth retardation | none | crossdressing |
CAKUT | – | – | – | – | hypospadias; hypodysplasia kidney |
Genetic alterations | two microduplications of~123 and 85 kb, the former of which spanned the entire S0X3 gene | microdeletion; a single 343 kb immediately upstream of SOX3, suggesting that altered regulation of SOX3 is the cause of XX male sex reversal | a large ~6 Mb duplication that encompasses SOX3 and at least 18 additional distally located genes | de novo duplication (0.5Mb) at Xq27.1 comprising SOX3, CDR1 and MR320D2 | a unique 550 kb duplication involving SOX3, the non coding RNA LINC00632, AK054921, CDR1 and the miRNA MIR320D2 |