Disease | hypoadrenalism |
Phenotype | C1621895|adrenal hyperplasia |
Sentences | 3 |
PubMedID- 23920000 | The novel mutation p.trp147arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,xy disorder of sex development. |
PubMedID- 22272129 | Coq10 levels were significantly lower in isolated hypoadrenalism than in patients with adrenal hyperplasia and multiple pituitary deficiencies [38]. |
PubMedID- 24953586 | Background: congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46xy genetic males. |
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