SUN-LB11 What Is the Value of Clinical Suspicion in Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (CAH 21OHD)?

Abstract

Aim: 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.Patients, material and methods: 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. Results: 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)]. The median age at diagnosis for the patients with SW and SV form were 8,0 (6,0 - 9,0) and 18,0 (14,5 - 37,5) days respectively (P= 0,001). The disease had been suspected before the result of the newborn screening in only 11 (23,9%) patients but had not been suspected before the screening in 35 (76,1%) patients. In 11 of the patients with clinical suspicion of the disease, 8 of them were affected by SW form (1 male with a previous brother affection and 7 females, 2 of them by previous brother affected and 5 of them with ambiguous genitalia). In only 3 patients affected by SV the disease there was clinical suspicion before the result of the screening. One of them was a boy with a previous brother affected and 2 of them were females born with ambiguous genitalia. In 35 patients the disease had not been suspected before the result of the newborn screening. Twenty-eight of them were affected by SW form and 7 by SV form. Twenty five of the 28 patients with SW form were males and 4 were females (in 3 of them had been an incorrect sex assignment at born). Six of the 7 patients affected by SV form without clinical suspicion of the disease were males and 1 was female (with genitalia classificated by degree 2 according to Prader scale). The disease was suspected in 64.3% of women (9/14) and only 6.3% of men (2/32) (p<0.001).The most frequent cause of clinical suspicion of CAH 21OHD were the presence of ambiguous genitalia in women [n = 7 (63.6%), of which 5 were SW and 2 SV form) followed by positive family history [n = 4 (36, 4%), of which 3 were SW form and 1 SV form)].When the result of Neonatal Screening was obtained 30 positive patients (65.2%) were at home without suspicion of illness, 11 (24.0%) newborns were admitted to the hospital for different reasons before the screening results were available and 5 (10.8%) patients were at home but with hospital follow-up due to clinical suspicion of illness (2 of them due to prenatal diagnosis by a previous relative, 2 women with SW form with incorrect assignment of sex at birth, labels such as men with cryptorchidism at birth and 1 woman with SV form in study by ambiguous genitalia). Conclusions: Clinical suspicion of CAH 21OHD was clearly insufficient to diagnose this severe disorder. 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.