ESPE2023 Free Communications Adrenals and HPA Axis (6 abstracts)
Management of congenital adrenal hyperplasia in the first 90 days of life: a multi-centre I-CAH analysis of contemporary practice
David BN Lim 1 , Jillian Bryce 2 , Salma R Ali 2,3 , Xanthippi Tseretopoulou 2,3 , Niels H Birkebaek 4 , Sabine E Hannema 5 , Ariadna Campos-Martorell 6 , Maria Clemente 6 , Uta Neumann 7 , Christa E Flück 8 , Sara Metzger 8 , Ruth E Krone 9 , Alina German 10 , Federico Baronio 11 , Navoda Atapattu 12 , Sumudu N Seneviratne 13 , Martine Cools 14 , Théry Mieke 14 , Tulay Guran 15 , Zehra Yavas Abali 15 , Antony Fu 16 , Dominika Janus 17 , Malgorzata Wasniewska 18 , Roberto Coco 18 , Gianni Russo 19 , Marianna Rita Stancampiano 19 , Walter Bonfig 20,21 , Mariacarolina Salerno 22 , Hedi L Claahsen-Van Der Grinten 23 , Bas PH Adriaansen 23 , Tania Bachega 24 , Fernanda Cavalieri Costa 24 , Otilia Marginean 25 , Luisa De Sanctis 26 , Ursina Probst 27 , Nina Lenherr-Taube 28 , Daniel Konrad 28 , Michele O’Connell 29 , Aneta Gawlik 30 , David E Sandberg 31 , Margarett Shnorhavorian 32 , Nils Krone 33 , S Faisal Ahmed 2,3 & Justin H Davies 1
1Department of Paediatric Endocrinology, University Hospital Southampton, Southampton, United Kingdom. 2Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, United Kingdom. 3Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom. 4Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark. 5Department of Paediatric Endocrinology, Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, Netherlands. 6Department of Paediatric Endocrinology, Hospital Universitari Vall d’Hebron, Barcelona, Spain. 7Clinic for Paediatric Endocrinology and Diabetes, Charité Universitätsmedizin Berlin, Berlin, Germany. 8Paediatric Endocrinology and Diabetology, University Children's Hospital Bern, Bern, Switzerland. 9Paediatric Endocrinology, Birmingham Women’s and Children’s Hospital, Birmingham, United Kingdom. 10Paediatric Endocrinology and Diabetes, Haemek Medical Center, Afula, Israel. 11Paediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di S. Orsola, Bologna, Italy. 12Endocrinology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka. 13Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. 14Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium. 15Department of Paediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey. 16Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kowloon, Hong Kong. 17Department of Paediatric and Adolescent Endocrinology, University Children's Hospital, Jagiellonian University, Krakow, Poland. 18Department of Human Pathology of Adulthood and Childhood, Division of Paediatrics, University of Messina, Messina, Italy. 19Department of Paediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Endo-ERN Centre for Rare Endocrine Conditions, Milan, Italy. 20Department of Paediatrics, Technical University München, Munich, Germany. 21Klinikum Wels-Grieskirchen, Wels, Austria. 22Paediatric Endocrine Unit, Department of Translational Medical Sciences, University Federico II, Naples, Italy. 23Department of Paediatric Endocrinology, Radboud University Medical Centre, Amalia Children’s Hospital, Nijmegen, Netherlands. 24Division of Endocrinology, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, Brazil. 25Ist Pediatric Clinic, Research Center of Disturbances of Growth and Development in Children-BELIVE, University of Medicine and Pharmacy "Victor Babes", Timisoara, Romania. 26Department of Paediatric Endocrinology, Regina Margherita Children’s Hospital, Torino, Italy. 27Paediatric Department, Kantonsspital Winterthur, Winterthur, Switzerland. 28Department of Endocrinology & Diabetology, University Children’s Hospital Zurich, University of Zurich, Zurich, Switzerland. 29Department of Endocrinology, Royal Children’s Hospital, Melbourne, Australia. 30Department of Paediatrics and Paediatric Endocrinology, Medical University of Silesia, Katowice, Poland. 31Susan B. Meister Child Health Evaluation & Research (CHEAR) Center, University of Michigan, Ann Arbor, MI, USA. 32Division of Urology, Seattle Children's Hospital, Seattle, WA, USA. 33Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom
Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.
Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH within the first 90 days of life, data was available in 121 from 26 centres in 15 countries. The median number of cases included per centre was 3 (range 1,16).
Results: Of the 121 infants (52 male), 90 (74%) were assigned sex at birth. The median (10th-90th percentile) age at presentation was 5 days (0-18) in the 104 infants diagnosed postnatally. 78 (64%) had newborn screening (NBS) but in 35 (45%) the diagnosis was reached prior to the NBS result. Diagnosis based on NBS was more likely in males than females (33/40 vs 10/38, P<0.0001). 120 infants (99%) had biochemical diagnosis at a median age of 7 days (2-25.6). In 53 (44%) infants, genetic confirmation was reached by 90 days. Hyponatraemia and hyperkalaemia occurred in 78 (64%) and 79 (65%) infants, with lowest sodium and highest potassium at median ages of 12 days (6.4-30.2) and 12 days (4-28.3), respectively. In 18 (15%) infants hypoglycaemia occurred with lowest level at a median age of 1 day (0-38.2). At 90 days, hyponatraemia and hyperkalaemia were evident in 7/95 (7%) and 20/89 (23%) infants, respectively. Blood pressure measurements were available in 37 (31%) infants and in 13 (35%) they were >95th centile. Hydrocortisone, fludrocortisone and salt were administered in 120 (99%), 116 (97%) and 107 (88%) infants, respectively. At initial hospital discharge, median doses of these three medications were 15.4mg/m2/day (11.5-34.1), 100mcg/day (50-200) and 3.6mmol/kg/day (1.7-8.88), respectively, and by 90 days the doses for hydrocortisone and salt were lower (both P<0.0001). Over the 90 days, there were a total of 190 hospitalisation episodes (including birth) in the 121 infants. The median duration of each episode was 4 days (2-19.8) and total hospitalisation duration in the 90 days per patient was 10 days (3-24). Of the 190 episodes, 44 (23%) had an associated adrenal crisis.
Conclusion: These novel contemporary data from a large number of centres show variation in CAH management over the first 90 days of life. It is expected these data will lead to development of data-driven clinical benchmarks and care standards.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more