eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital adrenal hyperplasia |
| Comorbidity | C1565489|renal insufficiency |
| 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- 24953586 | Background: congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46xy genetic males. |
| PubMedID- 21647419 | So far, patients described as having the recently described non-classic form of lipoid adrenal hyperplasia (nclah) presented with adrenal insufficiency in early infancy or later and, while manifesting with hypocortisolism, had inconsistent signs of mineralocorticoid deficiency [3], [4], [5], thus resembling the clinical profile of familial glucocorticoid deficiency (fgd). |
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