X-linked adrenal hypoplasia congenita
ORPHA: 95702
Overview
adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has material basis in the nuclear receptor NR0B1 (DAX1) gene
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 X-linked adrenal hypoplasia congenita, sourced from HPO and Orphanet clinical annotations.
Decreased serum testosterone concentrationDecreased libidoErectile dysfunctionSeizureWeight lossSparse pubic hairIncreased circulating ACTH levelHyperpigmentation of the skinDecreased circulating cortisol levelHypogonadotropic hypogonadismOligozoospermiaDelayed pubertyFailure to thrive in infancyVomitingDiarrheaNauseaHyperkalemiaVertigoHyponatremiaAdrenocortical cytomegalyPrimary adrenal insufficiencyDecreased testicular sizeFatigueDecreased circulating luteinizing hormone level
Classification & Codes
Orphanet Code
ORPHA:95702X-linked adrenal hypoplasia congenita
| Orphanet | ORPHA:95702 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO