Short answer · Medically reviewed summary · Last updated: 2026-05-08
Congenital Adrenal Hyperplasia (CAH) is a group of rare, inherited genetic disorders that affect the adrenal glands, leading to an imbalance in essential hormone production. Because the adrenal glands cannot produce enough cortisol, the body often compensates by overproducing androgens, which can impact physical development and metabolic function. What causes Congenital Adrenal Hyperplasia? Congenital Adrenal Hyperplasia (CAH) is primarily caused by a deficiency in one of the enzymes required by the adrenal glands to synthesize cortisol from cholesterol.
1 people with Congenital Adrenal Hyperplasia (CAH) have shared their first-person experience on this question at DiseaseMaps.
What is Congenital Adrenal Hyperplasia (CAH)
What is Congenital Adrenal Hyperplasia (CAH)? Plain-language, medically reviewed definition plus the lived reality told by patients.
Congenital Adrenal Hyperplasia (CAH) is a group of rare, inherited genetic disorders that affect the adrenal glands, leading to an imbalance in essential hormone production. Because the adrenal glands cannot produce enough cortisol, the body often compensates by overproducing androgens, which can impact physical development and metabolic function.
What causes Congenital Adrenal Hyperplasia?
Congenital Adrenal Hyperplasia (CAH) is primarily caused by a deficiency in one of the enzymes required by the adrenal glands to synthesize cortisol from cholesterol. The most common form, 21-hydroxylase deficiency, accounts for approximately 90-95% of all cases. When cortisol levels are low, the pituitary gland sends signals to the adrenal glands to work harder, causing them to enlarge (hyperplasia) and produce excess androgens instead.
What are the main types of CAH?
Clinicians generally categorize Congenital Adrenal Hyperplasia (CAH) based on the severity of the enzyme deficiency. These classifications help determine the clinical approach:
- Classic Salt-Wasting CAH: The most severe form, where the body cannot produce enough cortisol or aldosterone, leading to life-threatening salt loss.
- Classic Simple-Virilizing CAH: Characterized by significant androgen excess but sufficient aldosterone production to maintain salt balance.
- Non-Classic CAH: A milder, late-onset form that may not be diagnosed until childhood or adulthood, often presenting with symptoms of hyperandrogenism.
How common is this condition?
The prevalence of Congenital Adrenal Hyperplasia (CAH) varies by ethnicity and geographic region. Globally, the incidence of the classic form is estimated to be between 1 in 10,000 and 1 in 20,000 live births. At DiseaseMaps.org, 81 people with Congenital Adrenal Hyperplasia (CAH) have already joined our community to share their lived experiences and support one another.
Is Congenital Adrenal Hyperplasia hereditary?
Yes, Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive condition. This means that an individual must inherit two copies of the mutated gene—one from each parent—to manifest the disease. Parents who are carriers of the gene typically do not show symptoms themselves but have a 25% chance of passing the condition to each child.
Next steps
- Consult a pediatric endocrinologist for specialized management of hormone replacement therapy.
- Connect with the 81 members of the DiseaseMaps.org Congenital Adrenal Hyperplasia (CAH) community to share resources.
- Request genetic counseling to understand carrier status and family planning options.
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 Information Center (GARD): Congenital Adrenal Hyperplasia
- Orphanet: 21-hydroxylase deficiency
- OMIM (Online Mendelian Inheritance in Man): 21-Hydroxylase Deficiency
- The MAGIC Foundation: Congenital Adrenal Hyperplasia Support
Posted Jun 12, 2018 by Dena 3550
