Living with Congenital adrenal hyperplasia
A group of genetic conditions of the adrenal glands, which make too little of some hormones and too much of others.
Understanding Congenital adrenal hyperplasia
The adrenal glands sit on top of the kidneys and make hormones the body needs. People with CAH lack an enzyme needed for one or more of these hormones and often make too much androgen (such as testosterone). Severe forms may be seen soon after birth with dehydration, poor feeding, diarrhea and vomiting. Milder forms may not be found until the teen or adult years.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes these:
- Ambiguous genitalia at birth in girls with severe forms
- Dehydration soon after birth
- Poor feeding
- Vomiting and diarrhea
- Early signs of puberty
- Fertility problems
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 and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
CARES Foundation and National Adrenal Diseases Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: CARES Foundation, National Adrenal Diseases Foundation
- 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
It is caused by changes in genes that affect an enzyme the adrenal glands need. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: adrenal hyperplasia, congenital; cah; cah - congenital adrenal hyperplasia; congenital adrenal gland hyperplasia; congenital adrenogenital syndrome
Patient organizations
- CARES FoundationCongenital adrenal hyperplasia · United States
- National Adrenal Diseases FoundationCongenital adrenal hyperplasia · United States
- The MAGIC FoundationCongenital adrenal hyperplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital adrenal hyperplasia.
Explore research for Congenital adrenal hyperplasia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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