Table 3.
Reported Patients With P450scc Deficiency
| Patient | Mutations | Activity | Onset of Adrenal Failure | Adrenal Imaging | Karyotype | Genitalia | Maternal History; Miscarriage | Gestation | Ref. |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 271insGD; not found | Nil | 2–4 y | Normal size on CT | 46,XY | Female with clitoromegaly | None | Term | 7 |
| 2 | R353W; A189V/splice | 7–9 mo | 46,XX | Nl female | None | Term | 8 | ||
| 3 | c.835delA; c.835delA | Nil | 9 d | Not seen on MRI or U/S | 46,XY | Nl female | Low estriol; 2 miscarriages | 31 wk | 9 |
| 4 | A359V; A359V | 11.7% | 21 mo | Not seen on MRI or U/S | 46,XY | Nl female | None | Term | 10 |
| 5 | L141W; V415E | 38.5%; Nil | 1–9 d | 46,XY | Nl female | None | Term | 11 | |
| 6 | c.835delA; IVS3+(2–3)insT | Nil; Nil | 8 d | Not seen on MRI or U/S | 46,XY | Nl female | Low estriol; 1 miscarriage | Term | 11 |
| 7 | L222P; L222P | 7% | 9 y | Nrml size on MRI and U/S | 46,XY | Cryptorchidism, midshaft hypospadias | Consanguineous twin died at 2.5 y | Term | 12 |
| 8a | c.835delA; A296V | Nil; 11% | 9.75 y | Small; stippled calcifications | 46,XY | Penis 2.3 cm; hypospadias, bifid scrotum | None? | Term | 13 |
| 9a | c.835delA; A296V | Nil; 11% | 12 mo | Small; punctuate calcifications | 46,XX | Nl female | None? | Term | 13 |
| 10a | R451W; R451W | 30% | 4.1 y | Normal on U/S | 46,XY | Nl male | NA? | NA? | 14 |
| 11a | R451W; R451W | 30% | 2.5 y | Normal on U/S | 46,XY | Nl male | NA? | Term | 14 |
| 12 | R360W; R405X | 30–38%; Nil | Neonatal period | Normal on U/S | 46,XY | Micropenis, hypospadias, chordee, cryptorchidism | Threatened miscarriage, treated with progesterone | Term | 15 |
| 13 (patient 1) | R232X; R232X | Nil | Neonatal period | Not seen on U/S | 46,XX | Nl female | Consanguineous, 2 miscariages | Post term | This report |
| 14a (patient 2) | R232X; F215S | Nil; 3.5% | 1.2 y | Small by CT | 46,XY | Small penis | Consanguineous | Twin at term | This report |
| 15a (patient 3) | R232X; F215S (inferred) | Nil; 3.5% (inferred) | 14 mo, died at 6.3 y | ND | ND | Nl female | Consanguineous | Twin at term | This report |
| 16a (patient 4) | R232X; F215S | Nil; 3.5% | 4.75 y | ND | 46,XY | Nl male | Consanguineous | Term | This report |
| 17a (patient 5) | R232X; F215S | Nil; 3.5% | 1.5 y | Small by CT | 46,XX | Nl female | Consanguineous | Term | This report |
| 18 (patient 6) | R232X; R232X | Nil | Neonatal period | ND | 46,XX | Nl female | Consanguineous, 2 miscarriages | Term | This report |
| 19 (patient 7) | R120X; R120X | Nil | Neonatal period | Normal on U/S | 46,XX | Nl female | Hyperemesis | 37 wk | This report |
Abbreviations: CT, computed tomography; MRI, magnetic resonance imaging; U/S, ultrasound; ND, not done.
a
Patients 8 and 9, 10 and 11, 13 and 14, and 15 and 16 are pairs of siblings.