ESPE Abstracts

Objective: The treatment of children with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a challenge since both undertreatment and overtreatment with glucocorticoids can affect growth. Numerous reports in the literature have shown that the linear growth of individuals with CAH is affected and adult height is compromised. However, most of these data were obtained in the era before CAH newborn screening.

Design: We analyzed the height outcomes of patients with classical 21-hydroxylase deficiency diagnosed before and after the establishment of newborn screening.

Patients and Methods: We identified 619 patients with classical CAH (239 male, 380 female) and complete data sets regarding the information on newborn screening, phenotype, near adult height (NAH), and parental target height (TH). The median age of the patients at NAH was 15.9 years. The data was derived from 37 pediatric endocrinology centers that enter their data in the electronic registry of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED). To assess the effects of newborn screening, we used a linear regression model adjusted/stratified for sex and phenotype. We excluded patients who had been treated with prednisolone/ dexamethasone. Therefore, the final group consisted of 600 patients with classical CAH. Newborn screening was performed in 107 (17.3%) patients. Corrected NAH was calculated as the difference between NAH and TH. Descriptive analyses and linear regression models were implemented with SAS 9.4. Across all CAH patients, the corrected NAH (mean; 95% confidence interval) was lower in patients with CAH and newborn screening (-0.25 SDS; -0.44 - -0.06) than in patients without newborn screening (-0.44 SDS; -0.53 - -0.36) (P=0.069). The screening had no effect on cNAH in female patients (n=373), but cNAH was significantly lower (P=0.033) in male patients (n=227) with screening than without screening (-0.35 SDS, -0.62 - -0.07 vs. -0.69 SDS, -0.83 – -0.54). After stratifying for CAH phenotype, screening does not affect the cNAH of patients with SW-CAH (n=410), whereas patients with SV-CAH (n=190) had a significantly better cNAH (P=0.034) with screening 0.15 SDS (-0.28 – 0.59) than without screening (-0.35 SDS; -0.52 - -0.18).

Conclusions: Our data show that CAH newborn screening and subsequent early treatment are important factors for height outcomes in children with classical CAH. In particular, adult height was significantly improved by newborn screening in patients with SV-CAH and in male CAH patients.