Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding congenital adrenal hyperplasia is limited due to its rarity, affecting fewer than 10,000 individuals in the U.S. This low prevalence means that systematic clinical studies are often not feasible. Additionally, the genetic basis of the condition has only been partially characterized, leading to ongoing efforts to better understand the phenotypic spectrum and clinical management.
To navigate congenital adrenal hyperplasia, consider consulting an endocrinologist with expertise in adrenal disorders. They can provide tailored management strategies and monitor your condition effectively. Additionally, connecting with patient organizations such as the CARES Foundation (https://caresfoundation.org) and the Congenital Adrenal Hyperplasia Education and Support Network (https://congenitaladrenalhyperplasia.org) can offer valuable resources and support. If genetic testing is a consideration, seeking genetic counseling can help clarify risks for family members and guide reproductive choices.
Currently, there are 41 active clinical trials for congenital adrenal hyperplasia, focusing on various aspects of the condition, including treatment efficacy and safety. While there are no orphan drug designations, the ongoing research provides hope for improved management strategies. You can explore these trials further at ClinicalTrials.gov using the following link: https://clinicaltrials.gov/search?cond=congenital%20adrenal%20hyperplasia.
Actionable guidance for navigating care for congenital adrenal hyperplasia
To navigate congenital adrenal hyperplasia, consider consulting an endocrinologist with expertise in adrenal disorders. They can provide tailored management strategies and monitor your condition effectively. Additionally, connecting with patient organizations such as the CARES Foundation (https://caresfoundation.org) and the Congenital Adrenal Hyperplasia Education and Support Network (https://congenitaladrenalhyperplasia.org) can offer valuable resources and support. If genetic testing is a consideration, seeking genetic counseling can help clarify risks for family members and guide reproductive choices.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the congenital adrenal hyperplasia community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
2 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 10 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.