congenital adrenal hyperplasia
GPTKB entity
Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
adrenal glands
both males and females |
| gptkbp:alternativeName |
gptkb:CAH
adrenogenital syndrome congenital adrenocortical hyperplasia |
| gptkbp:associatedWith |
gptkb:CYP11B1
gptkb:CYP17A1 gptkb:CYP21A2 psychosocial issues gender assignment issues |
| gptkbp:canBeDiagnosedPrenatally |
yes
|
| gptkbp:canBeManagedBy |
hormone replacement therapy
|
| gptkbp:cause |
gptkb:hypoglycemia
short stature dehydration infertility failure to thrive hirsutism electrolyte imbalance adrenal crisis hyperpigmentation salt-wasting crisis precocious puberty ambiguous genitalia hypertension (in some forms) |
| gptkbp:causedBy |
enzyme deficiency
|
| gptkbp:detects |
elevated 17-hydroxyprogesterone
|
| gptkbp:diagnosedBy |
genetic testing
hormone testing newborn screening |
| gptkbp:firstDescribed |
1950
|
| gptkbp:ICD-10_code |
E25.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D000311
|
| gptkbp:mostCommonCause |
gptkb:21-hydroxylase_deficiency
|
| gptkbp:OMIM |
201910
|
| gptkbp:prevalence |
1 in 10,000 to 1 in 20,000 live births
|
| gptkbp:requires |
lifelong treatment
|
| gptkbp:subspecies |
gptkb:non-classic_CAH
gptkb:salt-wasting_CAH gptkb:simple_virilizing_CAH |
| gptkbp:treatment |
gptkb:glucocorticoids
endocrinologist mineralocorticoids salt supplementation |
| gptkbp:bfsParent |
gptkb:CYP21_family
|
| gptkbp:bfsLayer |
5
|