Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 9095% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting form and thereby reducing mortality.
Aim: This study describes the incidence of CAH in Turkey and analyses the results obtained from a pilot study of public CAH screening program of Turkish Directorate of Public Health comprising four cities of Turkey.
Method: Newborn babies ≥32 gestational weeks and ≥1500 gr birth weight were enrolled. Screening protocol included one sample two-tier testing. The first step comprised the measurement of 17α-hydroxyprogesterone (17-OHP) by fluoroimmunoassay in dried blood spots obtained at 35th days of life. The cases with positive initial screening were tested by steroid panelling using liquid chromatography-tandem mass spectrometry method to measure 17-OHP, 21-deoxycortisol, cortisol, 11-deoxycortisol, and androstenedione as a second-tier test. The babies with steroid ratio of (21-deoxycortisol+17-OHP)/cortisol ≥0.5 were referred to ped endo clinics for further assessment.
Results: From March 3, 2017, through July 15, 2017; 38 935 infants underwent testing. Of newborns screened, 2265 (5.82%) had second-tier testing, 212 (0.54%) of them were referred to paediatric endocrinology clinics for further evaluation, 6 babies were diagnosed with CAH (four males, two females). Four cases were identified as classical salt-wasting 21-OHD (two males, two females), one male baby had simple virilizing 21-OHD, one male baby had 11-OHD CAH. The incidence of classical 21-OHD CAH in the screened population was 1:7.787.
Conclusion: Our data showed that classical 21-OHD CAH incidence in Turkey is higher than those previously reported. Thus, it is recommended that CAH be added to newborn screening panel in Turkey. The use of steroid profiling as a second-tier test for CAH screening is effective in the diagnosis and differential diagnosis of CAH and reduces the burden of follow-up evaluations of false positive cases.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology