Congenital adrenal hyperplasia
GPTKB entity
Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
adrenal glands
both males and females |
| gptkbp:associatedWith |
gptkb:hypoglycemia
short stature dehydration failure to thrive virilization polycystic ovaries electrolyte imbalance hyperpigmentation oligomenorrhea hypertension (in some forms) testicular adrenal rest tumors |
| gptkbp:canBe |
classic form
late-onset form non-classic form salt-wasting form simple virilizing form |
| gptkbp:canBeManagedBy |
lifelong hormone replacement
stress dose steroids surgical correction (in some cases) |
| gptkbp:cause |
infertility
hirsutism adrenal crisis salt-wasting crisis precocious puberty ambiguous genitalia 11β-hydroxylase deficiency 17α-hydroxylase deficiency 3β-hydroxysteroid dehydrogenase deficiency lipoid CAH |
| gptkbp:causedBy |
enzyme deficiency
|
| gptkbp:detects |
elevated 17-hydroxyprogesterone
|
| gptkbp:diagnosedBy |
genetic testing
hormone testing newborn screening |
| gptkbp:firstDescribed |
1950
|
| https://www.w3.org/2000/01/rdf-schema#label |
Congenital adrenal hyperplasia
|
| gptkbp:ICD-10_code |
E25.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D000311
|
| gptkbp:monitors |
hormone levels
growth monitoring electrolyte levels |
| gptkbp:mostCommonCause |
gptkb:21-hydroxylase_deficiency
|
| gptkbp:OMIM |
201910
|
| gptkbp:prevalence |
1 in 10,000 to 1 in 20,000 live births
|
| gptkbp:treatment |
gptkb:glucocorticoids
mineralocorticoids |
| gptkbp:bfsParent |
gptkb:chromosome_10
gptkb:Adrenal_Gland |
| gptkbp:bfsLayer |
6
|