|
Enzymdefekt
|
Klinik
|
Labor |
| Intersexuelle
Genitale bei |
Salz-
verlust
|
postnatale
Virilisierung |
Plasmasteroide |
Urinsteroide
erhöht |
Defekt
auf Chromosom |
|
erhöht
|
erniedrigt
|
| 20,22-Des-
molase |
Jungen |
ja |
nein |
keine
|
alle
|
nein
|
15 |
3β-Hydroxy- steroid-
dehydro-
genase (3β-HSD) |
Jungen |
(ja) |
ja |
DHEA
Pregnenolon
17-Hydroxy-
Pregnenolon |
Aldosteron
Testosteron
17-Hydroxy-
Progesteron
Cortisol |
Pregnantriol
DHEA |
1q |
|
21-Hydroxylase
|
 |
mit Salz-
verlust |
|
Mädchen |
ja |
ja |
17-Hydroxy-
Progesteron
Androstendion
Testosteron |
Aldosteron
Cortisol |
Pregnantriol |
6p |
|
ohne
Salz-
verlust |
|
nein |
Cortisol |
11-Hydroxy-
lase |
Mädchen |
nein |
ja |
11-Deoxy-
corticosteron
11-Deoxy-
cortison |
Aldosteron
Cortisol |
Tetrahydro-
11-Deoxy-
corticosteron
Tetrahydro-
11-Deoxy-
cortisol |
8q |
17α-Hydroxy-
lase |
Jungen |
nein |
nein |
11-Deoxy-
corticosteron
Corticosteron |
keine |
Tetrahydro-
11-Deoxy-
corticosteron
Tetrahydro- Corticosteron |
10 |
|
Aldosteron-Synthase
|
| Typ I |
|
nein |
ja |
nein |
11-Deoxy-
corticosteron |
Aldosteron |
Tetrahydro-
corticosteron |
8q |
| Typ II |
|
18-Hydroxy-
corticosteron
Aldosteron |
keine |
18-Hydroxy-
corticosteron
Tetrahydro-
corticosteron |
