TY - JOUR
T1 - Contemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy
T2 - a multi-national registry study
AU - Lim, David B.N.
AU - Bryce, Jillian
AU - Ali, Salma R.
AU - Tseretopoulou, Xanthippi
AU - Birkebaek, Niels H.
AU - Hannema, Sabine E.
AU - Campos-Martorell, Ariadna
AU - Clemente, Maria
AU - Neumann, Uta
AU - Flück, Christa E.
AU - Metzger, Sara
AU - Krone, Ruth E.
AU - German, Alina
AU - Baronio, Federico
AU - Barat, Pascal
AU - Delagrange, Marine
AU - Vautier, Vanessa
AU - Vieites, Ana
AU - Rey, Rodolfo
AU - Elsedfy, Heba
AU - Atapattu, Navoda
AU - Seneviratne, Sumudu N.
AU - Cools, Martine
AU - Guran, Tulay
AU - Yavas Abali, Zehra
AU - Fu, Antony
AU - Janus, Dominika
AU - Shenoy, Savitha
AU - Wasniewska, Malgorzata
AU - Coco, Roberto
AU - Russo, Gianni
AU - Stancampiano, Marianna Rita
AU - Bonfig, Walter
AU - Salerno, Mariacarolina
AU - Claahsen-Van der Grinten, Hedi L.
AU - Adriaansen, Bas P.H.
AU - Mozzato, Chiara
AU - Guazzarotti, Laura
AU - Niedziela, Marek
AU - Banaszak-Ziemska, Magdalena
AU - Van Eck, Judith
AU - Bachega, Tania
AU - Miranda, Mirela C.
AU - Marginean, Otilia
AU - Munarin, Jessica
AU - De Sanctis, Luisa
AU - Probst-Scheidegger, Ursina
AU - Lenherr-Taube, Nina
AU - Konrad, Daniel
AU - O’Connell, Michele
AU - Gawlik-Starzyk, Aneta
AU - Sandberg, David E.
AU - Shnorhavorian, Margarett
AU - Krone, Nils
AU - Ahmed, S. Faisal
AU - Davies, Justin H.
N1 - Publisher Copyright:
© The Author(s) 2026. Published by Oxford University Press on behalf of European Society of Endocrinology.
PY - 2026/2
Y1 - 2026/2
N2 - 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/m2/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/m2/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.
AB - 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/m2/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/m2/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.
UR - https://www.scopus.com/pages/publications/105029373297
U2 - 10.1093/ejendo/lvag004
DO - 10.1093/ejendo/lvag004
M3 - Article
C2 - 41531283
AN - SCOPUS:105029373297
SN - 0804-4643
VL - 194
SP - 123
EP - 135
JO - European Journal of Endocrinology
JF - European Journal of Endocrinology
IS - 2
ER -
SDG 3 Good Health and Well-being