ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2025 Jan 21;110 (Supplement_1):S67-S73. PMID: 39836619. doi: 10.1210/clinem/dgae710

Brief Summary: This article reviews the barriers to care among patients with congenital adrenal hyperplasia (CAH). It highlights key issues, such as the importance of universal newborn screening, the consequences of inadequate care, and the sociocultural and financial obstacles that families face when managing the disease.

Newborn screening (NBS) for CAH improves outcomes by allowing early diagnosis and prevention of life-threatening crises. However, while NBS is widely implemented in developed nations, it is absent or limited in many parts of the world. Even in countries with high uptake of NBS, gaps in care remain due to regional disparities and logistical issues, such as delays in obtaining test results or limited access to follow-up care.

Following diagnosis, families in rural or remote areasface difficulties accessing specialist care. Financial barriers further complicate access to medications and specialists. In many cases, medication access can be inconsistent, and families may lack the knowledge or resources to administer medications properly, particularly stress dosing. Financial constraints often prevent families from accessing care, medications, or necessary diagnostic tests. Insurance challenges and out-of-pocket costs contribute to delays in treatment or adherence to prescribed regimens.

Stigmatization, especially regarding genital ambiguity, can lead to avoidance of medical care, concealment of the condition, or social isolation. This is particularly true in cultures where gender roles are strictly defined, and where treatment decisions may be influenced by societal expectations. Many individuals with CAH, particularly women, face traumatic experiences in medical settings and these experiences contribute to avoidance of medical care in adulthood.

The authors emphasize the need for improved resources and support for those with CAH. This includes more widespread implementation of NBS programs and improved access to comprehensive care centers with appropriate multidisciplinary teams for management. They also emphasize the importance of support networks for those with CAH, particularly in rural or isolated areas, including options for telehealth and online support. Continued efforts are needed to decrease patient and family burden and improve quality of life for those with CAH.