Congenital Adrenal Hyperplasia Market Size was more than USD 20 million in the 7MM (2023), expected to grow at a CAGR of ~40% during the forecast period

Congenital Adrenal Hyperplasia (CAH) market across the seven major markets (7MM), the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan—is anticipated to witness substantial growth over the forecast period. Valued at more than USD 20 million in 2023, the CAH market is expected to expand at an impressive CAGR of approximately 40% from 2020 through 2034, making it one of the fastest-growing endocrine disorder markets.

 

The United States is estimated to remain the dominant market, representing nearly 50% of all prevalent CAH cases across the 7MM in 2023. The EU4 and the United Kingdom also contribute significantly, with Germany projected to command the highest revenue share by 2034, followed by Italy, reflecting strong diagnostic capabilities and increasing therapeutic adoption across Europe. Japan further adds meaningful value to the overall market outlook.

 

In 2023, CAH prevalence was highest in the US, accounting for roughly half of the total 7MM burden, and this number is expected to rise steadily through 2034. DelveInsight’s epidemiological assessment indicates that diagnosed CAH cases are more commonly reported in individuals aged 18 years and older, underscoring the lifelong nature of this genetic adrenal disorder. Moreover, mutation-based analysis across the 7MM shows that 21-hydroxylase deficiency (21-OHD), caused by CYP21A2 gene mutations, represents the overwhelmingly predominant subtype, far exceeding the prevalence of 11β-hydroxylase deficiency (CYP11B1 mutation) and other rarer forms.

 

Diagnosis and ongoing evaluation of congenital adrenal hyperplasia typically involve hormonal assessments such as 17-hydroxyprogesterone (17-OHP), ACTH stimulation testing, androstenedione, cortisol, and plasma renin activity. Genetic testing for CYP21A2 mutations plays a critical role in confirming the CAH subtype and guiding therapeutic strategies.

 

Since the 1950s, glucocorticoids (GCs) have served as the backbone of CAH management. While GCs remain essential for suppressing excess adrenal androgen production, their long-term use is often associated with adverse effects and suboptimal disease control, highlighting the need for newer, more targeted therapies. Salt-wasting forms of CAH may also require mineralocorticoid replacement to maintain electrolyte balance and prevent adrenal crises.

 

The treatment landscape for congenital adrenal hyperplasia is now evolving rapidly, supported by an expanding pipeline of innovative, adrenal-targeted therapies. Notably, in July 2024, Neurocrine Biosciences announced FDA acceptance of two New Drug Applications (NDAs) with Priority Review for crinecerfont, intended for use in children, adolescents, and adults with classic CAH—marking a significant milestone for the field. In August 2024, Spruce Biosciences reported that topline data from the CAHmelia-204 trial of tildacerfont in adults and the CAHptain-205 study in both adult and pediatric populations are expected in Q4 2024, highlighting continued momentum in late-stage clinical development.

 

Overall, the Congenital Adrenal Hyperplasia market is positioned for accelerated and sustained growth through 2034, fueled by advancing therapeutic innovation, improved understanding of adrenal steroidogenesis, and robust clinical pipelines aiming to address unmet needs beyond traditional glucocorticoid therapy.

 

DelveInsight’s report, “Congenital Adrenal Hyperplasia Market Insights, Epidemiology, and Market Forecast–2034,” provides an in-depth examination of the disease landscape. The report includes detailed epidemiological analyses, market trends, treatment guidelines, emerging therapies, and forecasted market dynamics across the 7MM, empowering stakeholders with strategic intelligence to engage successfully in the evolving CAH market.

 

Some of the key facts of the Congenital Adrenal Hyperplasia Market Report:

• The leading Congenital Adrenal Hyperplasia Companies developing therapies include Lundbeck, BridgeBio, Crinetics Pharmaceuticals, Spruce Biosciences, Neurocrine Biosciences, and others.
• Potential future therapies for Congenital Adrenal Hyperplasia include EFMODY, Crinecerfont, Tildacerfont, ATUMELNANT, BBP-631, Lu AG13909, and others.
• The future of Congenital Adrenal Hyperplasia treatment holds promise, driven by ongoing research and the development of innovative therapies. Current management strategies, such as symptomatic medications, physical therapy, and supportive care, remain essential.

Congenital Adrenal Hyperplasia Overview

Congenital Adrenal Hyperplasia (CAH) is a group of inherited autosomal recessive disorders characterized by enzyme deficiencies that impair cortisol biosynthesis in the adrenal cortex. In many cases, the condition also affects the production of aldosterone and androgens, leading to hormonal imbalances that can manifest from birth through adulthood.

The most common form of CAH—accounting for nearly 90–95% of cases—is 21-hydroxylase deficiency, caused by mutations in the CYP21A2 gene. Other less common enzyme deficiencies include 11β-hydroxylase deficiency, 17α-hydroxylase deficiency, and 3β-hydroxysteroid dehydrogenase deficiency. Depending on the degree of enzyme impairment, CAH is classified into classic (salt-wasting and simple-virilizing) and non-classic forms.

Classic CAH often presents early in life with symptoms such as adrenal crisis, ambiguous genitalia in females, dehydration, electrolyte imbalance, and poor feeding. Non-classic CAH, the milder form, may manifest later with signs such as precocious puberty, hirsutism, infertility, or menstrual irregularities.

Diagnosis involves a combination of newborn screening, hormone level assessment (notably elevated 17-hydroxyprogesterone), genetic testing, and adrenal imaging in selected cases. Early detection is critical to prevent life-threatening adrenal crises and to guide gender-related management in infants.

Management of CAH focuses on lifelong glucocorticoid therapy to replace deficient cortisol and suppress excess androgen production. In salt-wasting CAH, mineralocorticoid supplementation and sodium replacement are also essential. Advances in therapy—such as CRF1 receptor antagonists, gene-based interventions, and steroid-sparing regimens—are transforming the long-term outlook for patients.

Ongoing research and emerging therapies like crinecerfont and tildacerfont aim to improve hormonal control, reduce glucocorticoid burden, and enhance quality of life for individuals living with CAH. With increasing awareness, improved diagnostic capabilities, and a strong pipeline of targeted therapies, the management landscape for congenital adrenal hyperplasia continues to evolve rapidly.

Learn more about Congenital Adrenal Hyperplasia treatment algorithms in different geographies, and patient journeys. Contact to receive a sample @ Congenital Adrenal Hyperplasia Treatment Market

Key Factors Driving Growth in the Congenital Adrenal Hyperplasia Market

• Rising disease awareness and improved diagnostics: Growing recognition of CAH among clinicians and broader screening initiatives (including newborn screening and more widespread hormonal/genetic testing) are leading to increased diagnosis rates, expanding the treated patient pool.
• High unmet clinical need and limitations of traditional therapy: Long-standing reliance on glucocorticoid therapy (and mineralocorticoid supplementation where needed) often carries risks of side effects and does not fully normalize hormone balance. This fuels demand for newer, safer, and more “physiologic” treatment options.
• Advances in novel therapeutics and a robust development pipeline: Recent regulatory progress and clinical development of next-generation drugs such as crinecerfont and tildacerfont are raising expectations for better disease control, reduced steroid burden, and improved long-term outcomes, making CAH treatment more attractive to patients and physicians alike.
• Growing adult patient population requiring long-term management:  As more CAH patients survive into adulthood (and are diagnosed in adolescence or later), there is rising need for sustainable lifelong therapy and management — increasing the overall market size.
• Improved regulatory environment and faster approvals: Regulatory approvals (e.g. for new drug applications) are accelerating the availability of innovative CAH therapies, encouraging investment and adoption.
• Enhanced patient and physician awareness of long-term risks and benefits: Both patients and healthcare providers are becoming better informed about the health risks of untreated or poorly managed CAH (hormonal imbalance, fertility issues, adrenal crisis), increasing demand for optimized care solutions.
• Growing global interest and penetration beyond traditional geographies: As diagnosis and care reach beyond specialized centers, and as emerging therapies become more broadly available, newer markets (outside traditional high-income countries) begin contributing to growth.

 

 

Recent Developments in Congenital Adrenal Hyperplasia Clinical Trials:

 

• In August 2025, Crinetics Pharmaceuticals announced that the FDA awarded Orphan Drug Designation (ODD) to Atumelnant, a novel once-daily oral ACTH receptor antagonist being developed for classic CAH — the first small-molecule ACTH receptor antagonist in development for the disease.
• In May 2025, subgroup analyses from the CAHtalyst pediatric trial showed that in children and adolescents with classic CAH, Crinecerfont allowed substantial glucocorticoid dose reductions while maintaining or improving androstenedione levels.
• At the 2025 ENDO 2025 meeting, data from a one-year follow-up of CAH adults treated with Crinecerfont showed sustained control of adrenal steroid imbalance, stable reductions in glucocorticoid dosing, and maintained hormone control.
• Phase-3 data (adult and pediatric programs) demonstrated that crinecerfont reduced excess androgen markers (e.g., androstenedione) and enabled meaningful glucocorticoid dose reductions compared with placebo while maintaining hormonal control — outcomes that supported regulatory filings and the subsequent approval. Peer-reviewed reports of these phase-3 trials were published and cited in 2024–2025.
• In July 2024 the FDA accepted two New Drug Applications for crinecerfont with Priority Review for children, adolescents and adults with classic CAH.

 

Learn more about the recent advancements in Congenital Adrenal Hyperplasia treatment landscape @ Congenital Adrenal Hyperplasia Recent Developments

 

Congenital Adrenal Hyperplasia Epidemiology

• Congenital Adrenal Hyperplasia predominantly affected males, with approximately 19,000 males diagnosed compared to 13,000 females in 2023 in the US.

Congenital Adrenal Hyperplasia Epidemiology Segmentation

• Total Prevalent Cases of Congenital Adrenal Hyperplasia
• Total Diagnosed Cases of Congenital Adrenal Hyperplasia
• Congenital Adrenal Hyperplasia cases by Age group
• Congenital Adrenal Hyperplasia cases by Gender
• Treated cases of Congenital Adrenal Hyperplasia
• Congenital Adrenal Hyperplasia cases by impact on Liver

Congenital Adrenal Hyperplasia Marketed Drugs

• EFMODY (Hydrocortisone Modified-release Hard Capsules): Neurocrine Biosciences

Congenital Adrenal Hyperplasia Emerging Drugs

• Crinecerfont: Neurocrine Biosciences
• BBP-631: BridgeBio

Congenital Adrenal Hyperplasia Market Barriers

• Limited Availability of Disease-Modifying Therapies: Although novel agents such as crinecerfont and tildacerfont are advancing the therapeutic landscape, the market still lacks true disease-modifying or curative options. Most therapies aim at suppressing androgen excess rather than correcting underlying enzymatic defects, restricting the overall clinical impact.
• Diagnostic Challenges and Under-Recognition: CAH remains underdiagnosed in several regions due to variation in newborn screening programs, limited awareness among primary care providers, and challenges in differentiating non-classic CAH from other endocrine disorders. Delayed or missed diagnoses contribute to suboptimal disease control and restrict market potential.
• High Clinical Complexity and Therapy Optimization Issues: CAH management requires precise balancing of glucocorticoid and mineralocorticoid doses to avoid both adrenal crises and steroid overexposure. Many patients fail to achieve optimal hormone control, and adherence remains challenging—particularly in pediatric and adolescent populations. This complexity slows adoption of new therapies and increases reliance on specialist care.

Request a free sample copy or view report summary: Congenital Adrenal Hyperplasia Market Report

 

 

Scope of the Congenital Adrenal Hyperplasia Market Report:

 

• Study Period: 2020–2034

• Coverage: 7MM [The United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan]

• Key Congenital Adrenal Hyperplasia Companies: Lundbeck, BridgeBio, Crinetics Pharmaceuticals, Spruce Biosciences, Neurocrine Biosciences, and others

• Key Congenital Adrenal Hyperplasia Therapies: EFMODY, Crinecerfont, Tildacerfont, ATUMELNANT, BBP-631, Lu AG13909, and others

• Congenital Adrenal Hyperplasia Therapeutic Assessment: Congenital Adrenal Hyperplasia current marketed and Congenital Adrenal Hyperplasia emerging therapies

• Congenital Adrenal Hyperplasia Market Dynamics: Congenital Adrenal Hyperplasia market drivers and Congenital Adrenal Hyperplasia market barriers

• Competitive Intelligence Analysis: SWOT analysis, PESTLE analysis, Porter’s five forces, BCG Matrix, Market entry strategies

• Congenital Adrenal Hyperplasia Unmet Needs, KOL’s views, Analyst’s views, Congenital Adrenal Hyperplasia Market Access and Reimbursement

 

About DelveInsight

 

DelveInsight is a leading Life Science market research and business consulting company recognized for its off-the-shelf syndicated market research reports and customized solutions to firms in the healthcare sector.