Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased circulating ACTH level
Always present (100%)HP:0003154
Melanoderma
Very frequent (80-99%)HP:0000953
Plasma cortisol low
Very frequent (80-99%)HP:0008163
Abnormal erection
Frequent (30-79%)HP:0100639
Adrenocortical cytomegaly
Frequent (30-79%)HP:0008186
Adrenocortical insufficiency
Frequent (30-79%)HP:0008207
Decreased circulating luteinizing hormone level
Frequent (30-79%)HP:0030344
Decreased libido
Frequent (30-79%)HP:0046504
Decreased testicular size
Frequent (30-79%)HP:0008734
Decreased testosterone
Frequent (30-79%)HP:0040171
Delayed puberty
Frequent (30-79%)HP:0000823
Diarrhea
Frequent (30-79%)HP:0002014
Dizziness
Frequent (30-79%)HP:0002321
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Hyperkalemia
Frequent (30-79%)HP:0002153
Hyponatremia
Frequent (30-79%)HP:0002902
Low gonadotropins (secondary hypogonadism)
Frequent (30-79%)HP:0000044
Nausea
Frequent (30-79%)HP:0002018
Oligospermia
Frequent (30-79%)HP:0000798
Tiredness
Frequent (30-79%)HP:0012378
Vomiting
Frequent (30-79%)HP:0002013
Decreased sexual hair
Occasional (5-29%)HP:0002225
Epilepsy
Occasional (5-29%)HP:0001250
Weight loss
Occasional (5-29%)HP:0001824
Absence of pubertal development
HP:0008197
Adrenal hypoplasia
HP:0000835
Azoospermia
HP:0000027
Congenital muscular dystrophy
HP:0003560
Cryptorchidism
HP:0000028
Decreased aldosterone production
HP:0004319
Quick Facts
- SNOMED CT
- 237764004
- UMLS CUI
- C0342482
- Fully Specified Name
- Congenital adrenal hypoplasia, X-linked (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.