eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gonadal dysgenesis |
| Comorbidity | C0001623|adrenal failure |
| Sentences | 2 |
| PubMedID- 22907560 | In humans, steroidogenic factor 1 (nr5a1/sf-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,xy and 46,xx individuals. |
| PubMedID- 24847309 | Sf1 mutations may associate gonadal dysgenesis with adrenal failure (43), yet isolated testicular dysfunction can be observed (44). |
Page: 1