Glucocorticoid deficiency 1
ORPHA: 361
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Glucocorticoid deficiency 1, sourced from HPO and Orphanet clinical annotations.
Precocious pubertyDecreased circulating aldosterone concentrationTesticular adrenal rest tumorRecurrent urinary tract infectionsAzoospermiaCongenital hypothyroidismIntellectual disabilityHypoglycemic comaHypertrophic cardiomyopathyTetraplegiaLeydig cell neoplasiaAdrenal insufficiencyDecreased circulating cortisol levelFailure to thriveHypotensionGeneralized hyperpigmentationAbnormal circulating adrenocorticotropin concentrationKetotic hypoglycemiaImpaired cortisol response to insulin stimulation testDecreased circulating dehydroepiandrosterone concentrationRenal salt wastingWeight lossVomitingDiarrheaConstipationAnorexiaHyperkalemiaHypoglycemic seizuresEpisodic abdominal painRecurrent infectionsHyponatremiaChronic fatigueHypernatriuriaCryptorchidismTall stature
Classification & Codes
Orphanet Code
ORPHA:361Glucocorticoid deficiency 1
| Orphanet | ORPHA:361 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO