Short answer · Medically reviewed summary · Last updated: 2026-05-08
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive genetic disorders characterized by a deficiency in one of the enzymes required for cortisol synthesis. While the medical community consistently uses the term Congenital Adrenal Hyperplasia (CAH), you may encounter various older or specific subtype names in your medical records or historical literature. What are the common synonyms and historical names for CAH? Because Congenital Adrenal Hyperplasia (CAH) is a spectrum of disorders, it has historically been referred to by several names based on its clinical presentation.
1 people with Congenital Adrenal Hyperplasia (CAH) have shared their first-person experience on this question at DiseaseMaps.
Congenital Adrenal Hyperplasia (CAH) synonyms
Other names for Congenital Adrenal Hyperplasia (CAH): synonyms, acronyms and related terms used by doctors and patients.
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive genetic disorders characterized by a deficiency in one of the enzymes required for cortisol synthesis. While the medical community consistently uses the term Congenital Adrenal Hyperplasia (CAH), you may encounter various older or specific subtype names in your medical records or historical literature.
What are the common synonyms and historical names for CAH?
Because Congenital Adrenal Hyperplasia (CAH) is a spectrum of disorders, it has historically been referred to by several names based on its clinical presentation. Older medical literature may refer to it as "adrenogenital syndrome" or "congenital adrenocortical hyperplasia." In specific historical contexts, it was sometimes labeled as "salt-wasting syndrome" when referring to the most severe forms. While these terms appear in older patient files, Congenital Adrenal Hyperplasia (CAH) is the standard terminology used by clinicians today to describe the underlying endocrine dysfunction.
Why does Congenital Adrenal Hyperplasia have multiple names?
The naming of Congenital Adrenal Hyperplasia (CAH) has evolved as our genetic understanding has become more precise. Physicians once named the condition based solely on external physical symptoms, such as ambiguous genitalia or electrolyte imbalances. Today, we classify the condition based on the specific enzymatic defect, such as 21-hydroxylase deficiency, which accounts for approximately 90-95% of all Congenital Adrenal Hyperplasia (CAH) cases.
How is the condition classified in medical databases?
To ensure consistency, international health organizations use standardized codes for Congenital Adrenal Hyperplasia (CAH):
- Orphanet: ORPHA:776
- OMIM (Online Mendelian Inheritance in Man): #201910 (for 21-hydroxylase deficiency)
- ICD-10: E25.0 (Congenital adrenal hyperplasia)
- ICD-11: 5A70.0
Next steps
- Consult an endocrinologist if you have concerns about your specific genetic subtype.
- Connect with the 81 members of the DiseaseMaps.org community who share experiences with Congenital Adrenal Hyperplasia (CAH).
- Request a formal genetic counseling session to understand your specific variant and its implications for family planning.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases (GARD) Information Center
- Orphanet (The portal for rare diseases and orphan drugs)
- OMIM (Online Mendelian Inheritance in Man)
- CARES Foundation (Congenital Adrenal Hyperplasia support and research)
Posted Jun 12, 2018 by Dena 3550
