17,20-lyase deficiency, isolated
MONDO:0800378Mondo
Findings
No curated finding names 17,20-lyase deficiency, isolated yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating corticosterone levelHPOHP:0012112
- Very frequent (80% to 99% of cases)
- Absence of secondary sex characteristicsHPOHP:0008187
- Very frequent (80% to 99% of cases)
- Decreased circulating androgen concentrationHPOHP:0030349
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Decreased serum estradiolHPOHP:0008214
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- DysmenorrheaHPOHP:0100607
- Very frequent (80% to 99% of cases)
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- Very frequent (80% to 99% of cases)
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- Very frequent (80% to 99% of cases)
- Enlarged polycystic ovariesHPOHP:0008675
- Very frequent (80% to 99% of cases)
Show the remaining 24
- Hypergonadotropic hypogonadismHPOHP:0000815
- Very frequent (80% to 99% of cases)
- Hypoplasia of the uterusHPOHP:0000013
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- MicropenisHPOHP:0000054
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Polycystic ovariesHPOHP:0000147
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of