ESPE Abstracts

It is well known that early diagnosis of growth disorders in children and their timely treatment are important for better outcomes.

Objective: To evaluate the results from the implementation of the Partners4Growth Twinning Programme at Bulgarian tertiary pediatric endocrinology clinics. Materials and Methods: Since 2019 Partners4Growth started operation at 6 centers – 3 experienced in growth disorders reference centers and 3 twin centers, with the main aim of aligning their practices in the shortest possible time. Education of twin centers’ personnel was organized and the methods for growth evaluation and follow-up were standardized. Paper growth charts and/or regulated web-based growth applications were used. With the support of the Programme all centers obtained certified equipment and reagents for previously unavailable hormonal and growth hormone (GH) stimulation tests. A questionnaire was implemented at baseline and at the 18^th month of the Programme collecting 1 answer per center. The questionnaire consisted of 41 questions concerning diagnosis of GH disorders and their management.

Results: A total of 104 new patients with growth disorders were diagnosed - 65 (63%) with GH deficiency, 16 (15%) with Turner syndrome, 12 (12%) with Prader-Willi syndrome and 11 (10%) children born small for gestational age without postnatal catch-up. Of those, 91 children, 59 (65%) boys, started treatment with GH at the mean age of 10.3±5.5 (2.1 – 17.9) years, representing more than 1/3 (35.8%) of all currently GH treated Bulgarian children. Compared to previous diagnostic campaigns in Bulgaria, Partners4Growth more than doubled newly diagnosed growth disorders. To confirm GH deficiency (GHD), 2 stimulation tests were performed. The first choice of provocative stimuli was primarily glucagon (n = 4; 66.7%), and arginin in 2 centers (33.3%). Insulin tolerance test was the second choice in 3 centers (50%), followed by glucagon (n = 2, 33.3%) and arginin (n = 1; 16.7%). Imaging and fundoscopy were performed in all patients with GHD at diagnosis. All participants’ first imaging choice was pituitary MRI, in 33.3% of centers replaced by CT scan occasionally. Karyotype was available at all centers, but DNA methylation tests and identifying genomic deletions or duplications were still accessible only in the experienced reference centers (n = 3).

Conclusion: Partners4Growth facilitated the alignment of the tertiary pediatric endocrinology centers competences thus leading to better geographic access to diagnosis and treatment of growth disorders. For its short existence, the Programme has significantly increased the number of newly diagnosed and treated patients. Further decrease of age at diagnosis remains a challenge.