| Source: |
Lim, D B N, Bryce, J, Ali, S R, Tseretopoulou, X, Birkebaek, N H, Hannema, S E, Campos-Martorell, A, Clemente, M, Neumann, U, Flück, C E, Metzger, S, Krone, R E, German, A, Baronio, F, Barat, P, Delagrange, M, Vautier, V, Vieites, A, Rey, R, Elsedfy, H, Atapattu, N, Seneviratne, S N, Cools, M, Guran, T, Yavas Abali, Z, Fu, A, Janus, D, Shenoy, S, Wasniewska, M, Coco, R, Russo, G, Stancampiano, M R, Bonfig, W, Salerno, M, Claahsen-Van der Grinten, H L, Adriaansen, B P H, Mozzato, C, Guazzarotti, L, Niedziela, M, Banaszak-Ziemska, M, Van Eck, J, Bachega, .... |
| Description: |
Objective: Management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in early infancy is challenging, with extent of variation in management unclear. Design and Methods: Using the I-CAH Registry, we retrospectively reviewed management over the first 90 days of life of 154 infants with 21-OHD born in 2018-2023, across 33 centers in 18 countries. Results: Of 154 infants (92 female, 62 male), 136 were diagnosed postnatally, with median (10th centile, 90th centile) presentation age of Day 4 (0, 20.8). At initial hospital discharge, median doses of hydrocortisone (HC), fludrocortisone (FC), and salt were 17 (11.4, 39.6) mg/m 2 /day, 100 (50, 200) mcg/day and 3.5 (1.6, 8.7) mmol/kg/day, and at Day 90 (D90) 14.5 (8.7, 24.1) mg/m 2 /day, 100 (50, 200) mcg/day, and 2.1 (1.0, 5.2) mmol/kg/day, respectively. Hyponatremia, hyperkalemia, and hypoglycemia were reported in 70.0%, 71.9%, and 13.0% of infants, respectively. At D90, hyponatremia and hyperkalemia were reported in 7.4% and 28.6%, respectively. At D90, BP measurements were recorded in 30.5%, amongst whom 31.9% had hypertension reported. Median total hospitalization duration over 90 days was 9 days (2, 24). Adrenal crises were associated with 40. 6% of hospitalization episodes. Percentages (males:females) of cases seen by a pediatric endocrinologist, psychologist, pediatric endocrine nurse specialist, and surgeon by D90 were 95.9% (58:84), 33.3% (9:35), 42.1% (20:36), and 23.8% (0:35), respectively. Conclusions: Contemporary management of CAH in early infancy varies considerably. Hypertension and hyperkalemia are frequently reported. Our data may help inform development of quality indicators for benchmarking CAH care in infancy. |