classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Findings
No curated finding names classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.
Definition from the Mondo Disease Ontology (MONDO:0008728), read 2026-09-29. CC BY 4.0.
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
56 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 response to ACTH stimulation testHPOHP:0031074
- Very frequent (80% to 99% of cases)
- Decreased circulating cortisol levelHPOHP:0008163
- Very frequent (80% to 99% of cases)
- Elevated circulating 17-hydroxyprogesterone concentrationHPOHP:0031213
- Very frequent (80% to 99% of cases)
- Increased circulating androgen concentrationHPOHP:0030348
- Very frequent (80% to 99% of cases)
- Increased circulating progesteroneHPOHP:0031216
- Very frequent (80% to 99% of cases)
- Abnormal circulating dehydroepiandrosterone concentrationHPOHP:0500022
- Frequent (30% to 79% of cases)
Show the remaining 44
- Decreased circulating aldosterone concentrationHPOHP:0004319
- Frequent (30% to 79% of cases)
- Decreased fertilityHPOHP:0000144
- Frequent (30% to 79% of cases)
- DehydrationHPOHP:0001944
- Frequent (30% to 79% of cases)
- Elevated urinary epinephrine levelHPOHP:0003639
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
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.
- CYP21A2HGNC:2600
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Also called
- 21-OHDclassic 21-OHD CAH