Congenital Adrenal Hyperplasia
GPTKB entity
Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:abbreviation |
gptkb:CAH
|
| gptkbp:affects |
adrenal glands
both males and females |
| gptkbp:associatedWith |
gptkb:hypoglycemia
short stature dehydration failure to thrive virilization electrolyte imbalance psychosocial issues menstrual irregularities rapid growth in childhood early bone maturation early pubic hair hypertension (in some forms) reduced fertility testicular adrenal rest tumors (in males) |
| gptkbp:canBeManagedBy |
lifelong hormone replacement
|
| gptkbp:cause |
adrenal crisis
aldosterone deficiency androgen excess cortisol deficiency |
| 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:mostCommonCause |
gptkb:21-hydroxylase_deficiency
|
| gptkbp:OMIM |
201910
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:non-classic_CAH
gptkb:salt-wasting_CAH gptkb:simple_virilizing_CAH |
| gptkbp:symptom |
infertility
hirsutism salt-wasting crisis precocious puberty ambiguous genitalia |
| gptkbp:treatment |
gptkb:glucocorticoids
mineralocorticoids |
| gptkbp:bfsParent |
gptkb:CAH
|
| gptkbp:bfsLayer |
7
|