congenital adrenal hyperplasia cah epidemiology forecast

Key Highlights

• Congenital Adrenal Hyperplasia (CAH) is a rare, inherited autosomal recessive disorder that affects the adrenal glands, which are responsible for producing essential hormones like corticosteroids, mineralocorticoids, and androgens. It results in the disrupted production of hormones, leading to various symptoms depending on the form and severity of the disorder.
• The most common cause of CAH is a deficiency in the enzyme 21-hydroxylase, which accounts for approximately 95% of all CAH cases. This deficiency leads to classical CAH and non-classical CAH, with classical CAH often presenting more severe symptoms, while non-classical CAH tends to manifest later in life with milder symptoms.
• Classical CAH may cause prenatal virilization in females, postnatal virilization in both sexes, and life-threatening salt-wasting crises (SW-CAH), where the body loses excessive salt.
• As per Delveinsight, the total number of diagnosed prevalent cases of Congenital Adrenal Hyperplasia in the US is ~30,000 in 2023.
• CAH predominantly affected males, with approximately 20,000 males diagnosed in 2023 in the US.
• 21 OHD (CYP21A2 gene mutation) is the most prevalent type of mutation in Congenital Adrenal Hyperplasia and more than 90% of the cases are related to this mutation.

DelveInsight’s  “Congenital Adrenal Hyperplasia (CAH) – Epidemiology Forecast – 2034” report delivers an in-depth understanding of Congenital Adrenal Hyperplasia, historical and forecasted epidemiology in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The table given below further depicts the key segments provided in the report:

Congenital Adrenal Hyperplasia (CAH): Disease Understanding 

Congenital Adrenal Hyperplasia (CAH) Overview, and Diagnosis

The most common form of CAH is caused by a deficiency in the enzyme 21-hydroxylase, which is responsible for converting precursor molecules into corticosteroids and mineralocorticoids. This deficiency is responsible for about 95% of all CAH cases, with varying degrees of severity depending on the genetic mutations and enzyme activity levels. CAH manifests in two broad categories: classical and non-classical. Classical CAH, the more severe form, often results in life-threatening adrenal crises, electrolyte abnormalities, and in some cases, abnormal genital development in females due to excessive androgen production. Non-classical CAH, on the other hand, is less severe and may present with milder symptoms such as early puberty, excessive body hair growth (hirsutism), and fertility issues. While these forms of CAH are primarily associated with 21-hydroxylase deficiency, other rarer forms of CAH arise from deficiencies in enzymes like 11-beta-hydroxylase, 17-alpha-hydroxylase, and 3-beta-hydroxysteroid dehydrogenase.

Diagnosing Congenital Adrenal Hyperplasia (CAH) involves a combination of clinical evaluation, laboratory testing, and genetic screening to confirm the presence of enzyme deficiencies in the adrenal glands. CAH is suspected in infants or children presenting with signs such as abnormal genital development in females or signs of salt-wasting crises in salt-losing CAH. In classical CAH, infants may exhibit symptoms like vomiting, dehydration, and a failure to thrive, which can indicate a deficiency in cortisol and aldosterone production.

Since CAH is a lifelong condition, treatment is typically tailored to each individual, with ongoing hormone replacement therapy, regular monitoring, and adjustments based on age and the severity of symptoms. For most patients with CAH, glucocorticoids such as hydrocortisone or prednisone are used to replace cortisol, helping to restore the body’s response to stress and maintain normal metabolism.

Congenital Adrenal Hyperplasia (CAH) Epidemiology

The Congenital Adrenal Hyperplasia (CAH) epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by Total Diagnosed Prevalent Cases Of Congenital Adrenal Hyperplasia, Gender Specific Cases of Congenital Adrenal Hyperplasia, Age Specific Cases of Congenital Adrenal Hyperplasia, Mutation based Cases of Congenital Adrenal Hyperplasia, and Type Specific Cases of Congenital Adrenal Hyperplasia in the United States, EU4 countries (Germany, France, Italy, Spain) and the United Kingdom, and Japan from 2021 to 2034.

• In the 7MM, the total number of diagnosed prevalent cases of Congenital Adrenal Hyperplasia (CAH) were ~70,000 in 2023.
• The US accounts for the highest prevalent cases of CAH about 50% of the total cases were from US in year 2023.
• In 2023, the prevalent cases of CAH in Female in the United States were ~13,000 in 2023 and it is expected to increase by CAGR of 3%.
• Germany has the most prevalent cases of Congenital Adrenal Hyperplasia among EU4 and UK, whereas the Spain has the fewest.
• The total diagnosed prevalent cases of Congenital Adrenal Hyperplasia in Japan was expected to reach ~3800 by 2034.

Scope of the Report

• The report covers a segment of key events, an executive summary, and a descriptive overview of Congenital Adrenal Hyperplasia (CAH), explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, and disease progression have been provided.
• A detailed review of current challenges in establishing diagnosis and diagnosis rate is provided.

Congenital Adrenal Hyperplasia (CAH) Report Insights

• Patient Population
• Country-wise Epidemiology Distribution

Congenital Adrenal Hyperplasia (CAH) Report Key Strengths

• Eleven-year Forecast
• The 7MM Coverage 
• Congenital Adrenal Hyperplasia (CAH) Epidemiology Segmentation

Congenital Adrenal Hyperplasia (CAH) Report Assessment

• Epidemiology Segmentation
• Current Diagnostic Practices

FAQs

Epidemiology Insights

• What are the disease risks, burdens, and unmet needs of Congenital Adrenal Hyperplasia? What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Congenital Adrenal Hyperplasia?
• What is the historical and forecasted Congenital Adrenal Hyperplasia patient pool in the United States, EU4 (Germany, France, Italy, Spain) and the United Kingdom, and Japan?
• What is the diagnostic pattern of Congenital Adrenal Hyperplasia?
• Which clinical factors will affect Congenital Adrenal Hyperplasia?
• Which factors will affect the increase in the diagnosis of Congenital Adrenal Hyperplasia?
• Which age group has a high patient share in the Congenital Adrenal Hyperplasia? 
• Which mutation type has a high patient share in the Congenital Adrenal Hyperplasia?
• Which gender has a high patient share in the Congenital Adrenal Hyperplasia?

Reasons to buy

• Insights on disease burden, details regarding diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the change in Congenital Adrenal Hyperplasia cases in varying geographies over the coming years.
• A detailed overview of total diagnosed prevalent cases of congenital adrenal hyperplasia, gender specific cases of congenital adrenal hyperplasia, age specific cases of congenital adrenal hyperplasia, mutation based cases of congenital adrenal hyperplasia, and type specific cases of congenital adrenal hyperplasia is included.
• To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis and insights on the treatment-eligible patient pool.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.