ESPE Abstracts

Background: The prevalence of congenital adrenal hyperplasia (CAH) in European countries is reported as 1:10–15 000. It depends on the quality of its diagnostics and efficacy of neonatal screening (NS). In Ukraine the NS was started in 2012.

Objective and hypotheses: This is the first study of CAH epidemiology in children 0–18-year-old in Ukraine.

Method: In 2013 it was created a database (DB) of Ukrainian children with CAH due to 21-hydroxylase deficiency on the basis of reports of regional paediatric endocrinologists and medical genetic centres.

Results: The DB included 332 children: 161 (48.5%) boys and 171 (51.5%) girls. 130 patients (39.2%) had simple-virilising form (SVF) (among them 56 boys (43%)) and 192 (57.8%) children had salt-wasting form (SWF) (among them 105 boys (54.7%)), non classical form (NCF) was diagnosed in 10 (3%) girls. The ratio SWF: SVF=1:0.7. Due to the DB 18 families had two children with CAH. During 2013 y. it had been identified 76 new cases of CAH: 47 (61.8%) infants and 29 (38.2%) children older than 1 year. Among them the SWF had 34 children (23 boys and 11 girls), SVF had 35 children (15 boys and 20 girls). NCF was diagnosed only in seven girls. In infants 30 cases (63.8%) of CAH were diagnosed by NS. According to the DB the prevalence of the CAH in Ukraine is 1:24 000, the incidence was calculated at one in 6 632 births (in 2013 it was born 503657 children in the ratio of boys and girls as 1:1). We calculated that the mean cost of diagnostic of one confirmed case of CAH by NS was 17 542 USD.

Conclusion: The use of NS only in boys and infants with ambiguous external genitalia will reduce the cost of screening by a half.