Objectives: To examine age at presentation and outcome in children diagnosed with 21-hydroxylase deficient congenital adrenal hyperplasia (21-OHD CAH) in Algeria in the absence of a national neonatal screening program.
Design: Retrospective analysis of patients followed in a single centre from 2007 to 2017. The diagnosis of CAH was established on clinical and biochemical grounds ± genetic analysis.
Results: Of 168 patients (114F, sex ratio 2:1) from 145 families (61% consanguineous), the classical salt-wasting (SW) form of 21-OHD CAH was most common (81%) comprising 136 (66% F) patients, while 30 (77% F) had simple virilising (SV-21OHD) and 2 (F) non-classical (NC-21OHD). Initial referral [n;%] was with disorder of sex development (DSD) [45; 27%] (100% F); dehydration [47; 28%] (96% M); DSD and dehydration [59; 35%] (100% F); sexual precocity [12; 7%] (58% M) and family history of CAH . At presentation DSD was found in all but four 46,XX patients (2 NC-21OHD and 2 treated prenatally). Dehydration occurred in 86 (51.5%) neonates, more frequently in males than females 53.4 vs 33.6%. Mean (S.D.) ages at presentation and start of hydrocortisone were significantly later in males than females: 191±524 vs 82±332; and 152±511 vs 262±639 days (P<0.001), attributable to DSD being the presenting feature in the latter. Mean age at diagnosis was significantly earlier in SW than SV 21-OHD 51±135 vs 637±946 days (P=<0.001). Mean plasma sodium at diagnosis was lower in males than females (118±11 vs 123±10 mmol/l, P< 0.03) and between the SW and SV 21-OHD 120±10 vs 130±3 mmol/l (P<0.001). Sixty-two (%) of 114 46,XX patients were initially assigned as males, mean ± SD (range) age at sex re-assignment 3.8±8 (036) months in 58, with four raised as males according to parental wishes. Since diagnosis, 8 (4.7%) patients have died in adrenal crisis while 18 of 89 patients aged ≥4 years have moderate to severe mental delay.
Conclusions: Currently, males with 21-OHD are diagnosed half as often as females, reflecting death from SW during the first few weeks. Delayed age at diagnosis causes severe hyponatremia in SW patients which increasing the risk of mortality and developmental delay. National screening for CAH in Algeria, where consanguinity rate and hence CAH prevalence is high, is urgently required.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology