Living with Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
An inherited condition of the adrenal glands that changes hormone levels, sex development, growth, and salt balance.
Understanding Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
There are two types, salt-wasting and simple-virilizing. Symptoms include differences in external sex organs in females (ambiguous genitalia), early puberty, and short stature. The salt-wasting form can also cause the body to lose salt and water, leading to dehydration, low blood pressure, and a serious adrenal crisis. It can be found through newborn screening. GARD lists onset at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Differences in external genitalia
- Early puberty
- Short stature
- Bone age that is more advanced than expected
- Menstrual cycle changes and acne
- Decreased fertility
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in CYP21A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CARES Foundation, National Adrenal Diseases Foundation and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: CARES Foundation, National Adrenal Diseases Foundation, Resolve: The National Infertility Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CARES Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the CYP21A2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 21-ohd; classic 21-ohd cah
Patient organizations
- CARES FoundationClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency · United States
- National Adrenal Diseases FoundationClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency · United States
- Resolve: The National Infertility AssociationInfertility · United States
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