ESPE Abstracts

Background and Aims: A congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are interrupted by gene mutations. More than 90% of CAH, is caused by 21-hydroxylase (21OHD) deficiency. The 17α-hydroxylase (17OHD) deficiency one of the less common forms of CAH, can result in significant morbidity and mortality if left untreated, thus making early diagnosis essential. In Saudi Arabia, research related to CAH is limited. Hence, this study aimed to examine the incidence and the associated clinical characteristics of neonatal CAH at Prince Sultan Military Medical City, Saudi Arabia, and provide evidence-based guidance for its application in CAH screening.

Methods: This retrospective, descriptive study, was conducted in April 2022 at Pediatric Endocrinology Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We reviewed the screening database in search of babies with suspected CAH, that is, altered birth- weight adjusted 17-hydroxyprogesterone (17-OHP) values at screening.

Results: A total of 54,940 newborns were screened from January 2019 to April 2022; among them, 169 CAH cases were detected, yielding an incidence of 1:325. Compared to females (38.1%), a higher percentage of males (67.7%) were diagnosed with CAH. The mean 17-OHP of the study population was 89 ± 32.4, gestation period 31.8 ± 12.5, and bodyweight of 1762 ± 367 g. Female infants have a lower mean 17-OHP value (75 ± 23.1) than males (93 ± 26.2). No significant changes were found in the bodyweight of male infants (1767g) and female infants (1759 g). Compared to other regions of Saudi Arabia, a higher percentage of (65.7%) of the CAH-positive case diagnosed in the Riyadh region.

Conclusion: The present findings highlighted the need for CAH screening by the public health care system in Saudi Arabia. Further, focused and evidence-based interventions, extensive collaborative studies, or meta-analyses are essential to determine the life-saving benefits of screening.

Keywords: Neonatal screening, congenital adrenal hyperplasia, incidence, Saudi Arabia