ESPE Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with congenital errors of steroid biosynthesis in the adrenal glands. The prevalence of CAH is estimated to be 1:10.000-20.000 for classic and 1:200-1.000 for non-classic types in Europe. In the Caucasus & Central Asia (C&CA), the prevalence is unknown. A delayed diagnosis is associated with an increased risk of neonatal morbidity/mortality, whereas early diagnosis reduces mortality rates. Newborn screening of CAH is a cost-effective method to identify affected neonates early. Treatment is lifelong, and access to necessary medication, which is affordable and lifesaving, is unfortunately low in Armenia. The ESPE C&CA School took place in Yerevan in 2023. During this event teachers shared knowledge and experience regarding CAH. Armenian doctors received support from the ESPE in developing a strategic plan to address unmet needs in the area of CAH. It was a great opportunity for a country with limited resources.

Aim: To initiate research into CAH, implement standardized systematic education for both patients and families with CAH and healthcare providers.

Methods: Identifying the pediatric population with CAH, creating and organizing standard educationаl program for healthcare staff, implementing of educational programming for parents and families and translating and distributing the CAH emergency cards and providing access to the online version at the www.adrenals.eu.

Results: All patients suspected to have CAH are referred to the Pediatric endocrinology center, where they undergo investigation. If the diagnosis is confirmed, they have continuous follow-ups by specially trained pediatric endocrinologists. Currently 72 patients are diagnosed with CAH in Armenia. The median age was 9,9 (0 to 17) years and 31 (43%) were girls, 41 (57%) boys. 35 % of CAH patients have salt-wasting form, 8,3 % have associated disorders of sex differentiation (DSD), and 6.9 % have non-classical CAH. In 8.3% of patients, CAH was associated with precocious puberty, including 3 boys. The European CAH emergency cards have been translated into Armenian. An individual treatment plan has been created and adapted to local practices. A structured educational program has been provided to healthcare professionals.

Conclusion: Standardizing the educational approach for pediatric endocrinologists will significantly improve the quality of CAH patient care. This approach ensures that patients and their families receive consistent and high-quality medical care and education. Now we can “speak the language” of European Pediatric Endocrinologists! More long-term follow up is needed to endure sustained benefits for CAH patients in Armenia.