eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gonadal dysgenesis |
| Comorbidity | C0035078|renal failure |
| Sentences | 3 |
| 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). |
| PubMedID- 22815844 | As the patient had 46,xy gonadal dysgenesis together with renal failure (focal segmental glomerulosclerosis), and gb with dysgerminoma, without wilm’s tumor, all pointing to fs, the wt1 gene was analyzed. |
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