congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Findings
No curated finding names congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.
Definition from the Mondo Disease Ontology (MONDO:0008730), read 2026-09-29. CC BY 4.0.
Features
41 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 dehydroepiandrosterone concentrationHPOHP:0500022
- Very frequent (80% to 99% of cases)
- Abnormal response to ACTH stimulation testHPOHP:0031074
- Very frequent (80% to 99% of cases)
- Congenital adrenal hyperplasiaHPOHP:0008258
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- Increased circulating corticosterone levelHPOHP:0032362
- Very frequent (80% to 99% of cases)
- Increased circulating gonadotropin levelHPOHP:0000837
- Very frequent (80% to 99% of cases)
- Increased urinary 11-deoxycorticosterone levelHPOHP:0032330
- Very frequent (80% to 99% of cases)
- Absence of pubertal developmentHPOHP:0008197
- Frequent (30% to 79% of cases)
- Absence of secondary sex characteristicsHPOHP:0008187
- Frequent (30% to 79% of cases)
- Adrenocorticotropic hormone excessHPOHP:0011749
- Frequent (30% to 79% of cases)
- Bilateral cryptorchidismHPOHP:0008689
- Frequent (30% to 79% of cases)
Show the remaining 29
- Decreased circulating aldosterone concentrationHPOHP:0004319
- Frequent (30% to 79% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Frequent (30% to 79% of cases)
- Decreased circulating renin concentrationHPOHP:0003351
- Frequent (30% to 79% of cases)
- Decreased fertilityHPOHP:0000144
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP17A1HGNC:2593
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Also called
- 17-alpha-hydroxylase/17,20-lyase deficiencyCAH due to 17-alpha-hydroxylase deficiencycombined 17-hydroxylase/17,20-lyase deficiency