Published: 2023 January 10

Congenital Adrenal Hyperplasia Diagnosis Market

SKU : MD4114
180 pages
Report Summary
Table of Contents
List of Tables & Figures

Congenital Adrenal Hyperplasia Diagnosis Market is segmented By Diagnosis (Amniocentesis, Chorionic villus sampling, Blood Tests, Urine Tests, Gene Testing, Karyotype Test, Physical Exam, Others), By Type (Classic Congenital Adrenal Hyperplasia, Non-classic Congenital Adrenal Hyperplasia), By End-user (Hospitals, Diagnostic Centers, Ambulatory Surgical Centers, Clinics, Others), By Region (North America, Latin America, Europe, Asia Pacific, Middle East, and Africa) – Share, Size, Outlook, and Opportunity Analysis, 2023-2030.

Congenital adrenal hyperplasia diagnosis market is estimated to reach at a high CAGR 7.7% during the forecast period (2023-2030). Congenital adrenal hyperplasia refers to a group of genetic conditions that affect the adrenal glands leading to low levels of cortisol and high levels of male hormones called androgens, causing the development of male characteristics in females and early puberty in both boys and girls. The milder and more common form of congenital adrenal hyperplasia (CAH) is called non-classic. The classic form, which is more severe, can be detected through newborn screening. Some forms of CAH can cause problems with normal growth and development in children and even be life-threatening.

Congenital Adrenal Hyperplasia Diagnosis Market



Market CAGR


Segments Covered

By Diagnosis, By Type, By End-User, and By Region

Report Insights Covered

Competitive Landscape Analysis, Company Profile Analysis, Market Size, Share, Growth, Demand, Recent Developments, Mergers and acquisitions, New Product Launches, Growth Strategies, Revenue Analysis, and Other key insights.

Fastest Growing Region

Asia Pacific

Largest Market Share 

North America

Market Dynamics

The global congenital adrenal hyperplasia diagnosis market growth is driven by the The increasing prevalence of congenital adrenal hyperplasia and genetic disorders has boosted the growth of the market. Many government organization is helping the manufacturer by providing funds for research. Additionally, increasing the need for better treatment and increasing government support has driven the global market.

The increasing prevalence of congenital adrenal hyperplasia is expected to drive the market growth

The global incidence of congenital adrenal hyperplasia in newborns is roughly 1 in 16,000 to 1 in 20,000. The incidence in the U.S. is around 1 in 16,000 to 1 in 18,000 population. The most common cause of CAH is the absence of the enzyme 21-hydroxylase. Different mutations in the gene responsible for 21-hydroxylase result in different enzyme levels, producing a spectrum of effects. The incidence of CAH reported from Australia and Italy varies from 1 in 15,488 or 18,105 births to 1 in 18,034 or 25,462 births. The incidence of screen positive CAH among the cohort of 104,066 babies screened at birth in India was 1 in 5762 as per a recent report by the All India Institute of Medical Sciences.

Growing government funding and clinical trials are expected to drive the market growth

Government funding and support, along with collaborative research with large pharmaceutical players, are anticipated to boost the growth of the global market shortly. In 2018, the International fund Raising for Congenital Adrenal Hyperplasia (IFCAH) launched the eighth call for proposals associated with ESPE. According to Clinical,





Congenital Adrenal Hyperplasia

Drug: Crinecerfont

Phase 3

Neurocrine Biosciences


Moreover, Spruce Biosciences plans to initiate a Phase 2 trial of tildacerfont in children with classic CAH in 2021.

Side effects and high cost of treatment options may sustain the market's growth over the forecast period.

Consuming Corticosteroids can have certain side effects such as edema (swelling of the legs), weight gain, high blood pressure, loss of potassium, headache, muscle weakness, puffiness of the face, facial hair growth, easy bruising in the skin and thinning of the skin. Other side effects include slow healing of a wound, glaucoma, cataracts, ulcers, menstrual irregularity and rounding of the upper back. Sometimes it may also result in psychological disturbances such as mood swings, insomnia, euphoria and depression. Financial lucidity of consumers has made them independent enough to spend out-of-the-pocket on their health. However, cost of these surgeries and treatments is high even after an insurance cover, which is preventing the market from realizing its full potential. As per the US National Library of Medicine, the cost to diagnose in seven infants detected clinically was $79,187. The incremental costs for the screening program were $115,169 per additional infant diagnosed through the first screen and $242,865 per additional infant diagnosed through the second screen.

COVID-19 Impact Analysis

The coronavirus (COVID-19) pandemic and resulting lockdown in various countries across the globe have impacted major companies' financial status in the urea cycle disorders treatment market. The private healthcare sector is one of the sectors, which the COVID-19 pandemic has majorly impacted. The pandemic has negatively impacted the global congenital adrenal hyperplasia market in various aspects such as research and development, production, and supply of medicines. The pandemic has also affected the growth of pharmaceutical businesses of various companies across the globe due to lockdowns implemented by governments of several countries.

Segment Analysis

The Classic congenital adrenal hyperplasia segment is expected to hold the largest share in this market segment

The segment is expected to grow at a steady pace during the forecast period. It is likely to be driven by a rise in the prevalence of classic congenital adrenal hyperplasia across the globe. Classic congenital adrenal hyperplasia is the most prevalent form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, responsible for roughly 95% of cases. Classic congenital adrenal hyperplasia is of two types: simple virilizing and salt wasting. Salt wasting form of congenital adrenal hyperplasia leads to symptoms such as dehydration and hypotension in the first few weeks of life and can be life-threatening. The salt-wasting congenital adrenal hyperplasia accounts for 70% of the classic congenital adrenal hyperplasia cases.

The amniocentesis segment is expected to hold the largest share in this market segment

Amniocentesis is used to determine whether an unborn child carries gene mutations associated with congenital adrenal hyperplasia. In amniocentesis, the doctor removes a sample of the amniotic fluid surrounding the unborn child. Amniocentesis is almost 99.4% accurate, and this test determines if the baby in the womb has any genetic or chromosomal abnormalities. The test can identify many genetic disorders, such as Down syndrome, Edward’s syndrome, Tay-Sachs disease, Huntington’s disease, sickle cell disease, and cystic fibrosis. It can provide the information needed to diagnosis these complications in the fetus. Due to the high reliability of the test, its adoption is good across several healthcare facilities. Therefore, the market is expected to expand over the forecast period. In 2019, there were a total of 13,306 babies with one or more congenital anomalies notified to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) congenital anomaly statistics 2019 report, covering 614,952 total births (live births and stillbirths). Although amniocentesis is considered a safe procedure, it is recognized as an invasive diagnostic test that poses potential risks. According to the Mayo Clinic, it is performed approximately 200,000 times a year.

Moreover, an increase in pregnancy rate; rise in preference for non- and minimally-invasive diagnostic procedures also fuel the growth in the market. Extensive R&D by major companies across the globe to introduce needle technology with maximum safety and precision is expected to contribute to the segment expansion. In January 2017, a research team from the University of Adelaide developed a biopsy needle attached with a tiny imaging probe to enable surgeons to evaluate the particular blood vessels at risk as they insert the needle, preventing fatal bleeding. Moreover, the emergence of needle technology focuses on reducing the pain and anxiety experienced during injections.

The hospital's segment is expected to hold the largest share in this market segment

The hospital's segment will likely capture the highest share of the market. It is projected to be the most lucrative segment of the global congenital adrenal hyperplasia diagnosis market during the forecast period. Governments are extending support and funding toward increasing the number of skilled surgeons. This, in turn, increases the number of hospitals offering surgeries and treatment for congenital adrenal hyperplasia. For instance, the International Fund Congenital Adrenal Hyperplasia (IFCAH) is a private fundraising organization that aims to promote academic research on congenital adrenal hyperplasia.

Geographical Analysis

North America region holds the largest market share of the global congenital adrenal hyperplasia diagnosis market

North America is expected to dominate the overall congenital adrenal hyperplasia diagnosis market throughout the forecast period. This dominance is owing to the large patient population, growing prevalence of congenital adrenal hyperplasia, and strong government support for research & development. CAH is an orphan disease that has an incidence estimated to be approximately 1 in 15,000 live births in North America. Well-established hospitals and health care infrastructure are anticipated to cater to the rise in demand for congenital adrenal hyperplasia treatment in North America during the forecast period. For instance, according to the U.S. News & World Report L.P, evaluated 1,479 hospitals challenging urology patients and treat conditions such as those affecting the urinary tract, adrenal gland, bladder and prostate. Developed countries are considered hubs for safe and effective surgeries. This perception will create opportunities in the congenital adrenal hyperplasia market in North America.

Competitive Landscape

The global congenital adrenal hyperplasia diagnosis market is moderately competitive with presence of global companies.  Some of the key players which are contributing to the growth of the market include Medline Industries, Inc, Cook Medical, Cooper Surgical, Smiths Medical, Becton, Dickinson and Company, Rocket Medical Plc, CENTOGENE N.V, Eurofins Scientific, PerkinElmer Inc, F. Hoffmann-La Roche AG. The major players are adopting several growth strategies such as product launches, acquisitions, and collaborations, which are contributing to the growth of the market globally. For instance, In April 2019, Boryung Biopharma launched "Mom Scanning Plus," which is a non-invasive prenatal test, alongside CancerRop, a local firm that detects genetic disorders using molecular diagnostics. The experiment uses the G-Scanning plus database, a tool that can diagnose neonatal developmental diseases by genetic analysis and can identify further than 100 distinct Microgen deletions and overlapping illnesses.

Key Companies to Watch

Medline Industries, Inc,

Overview: Medline Industries is a leading global healthcare company providing quality medical and surgical supplies with superior value throughout North America, Europe, Asia and the Middle East. Founded in 1910, It has grown from a small manufacturer of aprons, surgical gowns and uniforms to a thriving global healthcare company by its dedicated people, entrepreneurial spirit and moral values. Fifty-four years of consecutive annual growth have led to 2020 sales of more than $16 billion worldwide and a stream of new products and services.

Product Portfolio: The company manufactures and distributes medical and surgical products, medical equipment and medical products to healthcare institutions and retail markets around the globe. 

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