Abstract
The aim of the study was to analyze the clinical suspicion and where patients
were when they received the positive result of the neonatal screening for CAH
21OHD. The present data derived from a retrospective analysis of a relatively
large group of patients with classical CAH 21OHD patients nosed by newborn
screening in Madrid, Spain. During the period from 1990 to 2015 of this study 46
children were diagnosed with classical 21OHD [36 with the salt-wasting (SW) form
and 10 with simple virilizing (SV)]. In 38 patients, the disease had not been
suspected before the neonatal screening result (30 SW and 8 SV). Thirty patients
(79%) were at home without suspicion of any disease, as healthy
children, 3 patients (8%) were at home pending completion of the study
due to clinical suspicion of any disease (ambiguous genitalia, cryptorchidism)
and 5 patients (13%) were admitted to the hospital for reasons unrelated
to CAH (sepsis, jaundice, hypoglycemia). It is relevant to note that
69.4% of patients (25/36) with SW form were at home with
potential risk of adrenal crisis. Six females had been incorrectly labeled as
male at birth. The most frequent reason for clinical suspicion was genital
ambiguity in women followed by family history of the disease. Neonatal screening
provided better results than clinical suspicion. In the majority of patients
with 21OHD the diagnosis by screening was anticipated to the clinical suspicion
of the disease even in female patients with ambiguous genitalia.
Key words
neonatal screening - congenital adrenal hyperplasia - 21-hydroxylase deficiency - salt-wasting form - simple virilizing form
