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PedAM

Pediatric Disease Annotations & Medicines




Disease hypoadrenalism
Phenotype C0018051|gonadal dysgenesis
Sentences 2
PubMedID- 24847309 Sf1 mutations may associate gonadal dysgenesis with adrenal failure (43), yet isolated testicular dysfunction can be observed (44).
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.

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