Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid

Abstract

Background: The objective of this study was to analyze the clinical suspicion and where the patients were when they received the result of the neonatal screening for 21 hydroxylase deficiency (21OHD). Methods: The present data were derived from a retrospective analysis of a group of patients with classical 21OHD discovered by newborn screening and treated at the Center for Clinical Follow-up of the Autonomous Community of Madrid. Stadistic analysis of the data was performed using version 15.5 of the SPSS® software. Results: During the period from 1990 to 2015 of this study 46 children were diagnosed with classical 21OHD [36 with the salt-wasting (SW) and 10 with simple virilizing form (SV)]. The median age at diagnosis for the patients with the SW and SV form were 8.0 (6.0-9.0) and 18.0 (14.5–37.5) days respectively (P=0.001). In 35 (76.1%) patients the disease had not been suspected before the result of newborn screening, 28 patients affected by SW form, with a potential risk of death due to adrenal crisis (of which, in addition 6 women with incorrect assignment of sex at birth) and 7 patients affected with SV form. Two thirds of the patients with classic forms identified by neonatal screening were in their homes without suspicion of any disease or pending any additional study. Conclusions: Neonatal screening provided better performance than clinical suspicion. In the majority of patients with 21OHD detected by newborn screening, the diagnosis by screening was anticipated to the clinical suspicion of the disease even in female patients with ambiguous genitalia.