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PedAM

Pediatric Disease Annotations & Medicines




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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