Impact of Newborn Screening on Adult Height in Patients with Congenital Adrenal Hyperplasia (CAH).

Abstract

Treatment of children with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is challenging. Linear growth and adult height are compromised according to recent publications. However, most of these data were obtained in the era before CAH newborn screening. Body height of patients with classical CAH diagnosed before and after the establishment of newborn screening were analyzed retrospectively. We identified 600 patients with classical CAH (227 male) with data on near-adult height (NAH), target height (TH), and information on newborn screening from the electronic German CAH registry (DGPAED society). Newborn screening was performed in 101 (16.8%) patients. All patients received hydrocortisone with or without fludrocortisone.To assess the effects of newborn screening, a linear regression model adjusted/stratified for sex and phenotype was used (SAS 9.4). TH corrected NAH (mean; 95% confidence interval) was closer to zero in patients with CAH and newborn screening (-0.25 SDS; -0.44 - -0.06) than in patients without newborn screening (-0.44 SDS; -0.52 - -0.36) (p=0.069). Screening had no effect on NAH in female patients. In male patients, NAH was significantly better (p=0.033) with screening than without screening. After stratifying for CAH phenotype, screening did not affect the NAH of patients with Salt-wasting-CAH. Patients with Simple-virilizing-CAH 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). Our data suggest that newborn screening might be associated with improved near-adult height in male CAH patients and in patients with SV-CAH.