Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal response to ACTH stimulation test
Very frequent (80-99%)HP:0031074
Abnormal serum dehydroepiandrosterone level
Very frequent (80-99%)HP:0500022
Congenital adrenal hyperplasia
Very frequent (80-99%)HP:0008258
Decreased testosterone
Very frequent (80-99%)HP:0040171
Gonadotropin excess
Very frequent (80-99%)HP:0000837
High blood pressure
Very frequent (80-99%)HP:0000822
Increased circulating corticosterone level
Very frequent (80-99%)HP:0032362
Increased urinary 11-deoxycorticosterone level
Very frequent (80-99%)HP:0032330
Absence of pubertal development
Frequent (30-79%)HP:0008197
Absence of secondary sex characteristics
Frequent (30-79%)HP:0008187
Adrenocorticotropic hormone excess
Frequent (30-79%)HP:0011749
Cryptorchidism, bilateral
Frequent (30-79%)HP:0008689
Cystic ovaries
Frequent (30-79%)HP:0000138
Decreased circulating renin level
Frequent (30-79%)HP:0003351
Decreased fertility
Frequent (30-79%)HP:0000144
Decreased function of male gonad
Frequent (30-79%)HP:0000026
Delayed puberty
Frequent (30-79%)HP:0000823
Delayed skeletal development
Frequent (30-79%)HP:0002750
Elevated circulating follicle stimulating hormone level
Frequent (30-79%)HP:0008232
Elevated circulating luteinizing hormone level
Frequent (30-79%)HP:0011969
Gynaecomastia
Frequent (30-79%)HP:0000771
Hypocortisolism
Frequent (30-79%)HP:0008163
Hypospadias
Frequent (30-79%)HP:0000047
Increased circulating progesterone
Frequent (30-79%)HP:0031216
Low blood potassium levels
Frequent (30-79%)HP:0002900
Menstrual irregularity
Frequent (30-79%)HP:0000858
Mineralocorticoid insufficiency
Frequent (30-79%)HP:0004319
Primary amenorrhea
Frequent (30-79%)HP:0000786
Absent axillary hair
Occasional (5-29%)HP:0002221
Absent pubic hair
Occasional (5-29%)HP:0002555
Related Conditions
Quick Facts
- SNOMED CT
- 124220008
- UMLS CUI
- C0268285
- Fully Specified Name
- Deficiency of steroid 17-alpha-monooxygenase (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.