BSPED2023 Oral Communications Oral Communications 8 (5 abstracts)
Association of newborn screening of congenital adrenal hyperplasia with outcomes in the first 90 days of life: a multi-centre I-CAH registry 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 P.H. Adriaansen 23 , Tania Bachega 24 , Mirela C Miranda 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: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.
Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.
Results: Of the 121, NBS was performed in 78 (64%) of whom 35 (45%) had CAH diagnosed prior to result notification. Diagnosis modes included: positive NBS (GrpA) (36%, males:females 33:10), atypical genitalia (GrpB) (34%, 0:41), adrenal insufficiency with/without adrenal crisis (AC) (GrpC) (17%, 14:6), prenatal diagnosis (14%, 5:12). Diagnosis by NBS was commoner in males (33/40) than females (10/38) (P<0.0001). Median age at presentation in GrpA (i.e. result notification) was 7d [range 2,28] vs 0d [0,19] in GrpB (P<0.00001) and 15.5d [4,55] in GrpC (P<0.00001). Median age at treatment initiation in GrpA was 9d [3,2] vs 5d [1,26] in GrpB (P<0.001) and 15d [7,81] in GrpC (P<0.001). Frequency of AC at initial presentation in GrpA and GrpB was 4/43 and 2/41 respectively (P=0.68). Proportion of patients with AC post-treatment was similar in GrpA, GrpB and GrpC at 4/43, 2/20 and 7/41 respectively (no significant difference). Frequency of pre-treatment hyponatraemia (27/43), hyperkalaemia (30/43) and hypoglycaemia (5/43) in GrpA was similar to GrpB (17/39, 20/38, 6/38 respectively) (P=0.12, P=0.17, P=0.75 respectively), but lower than GrpC (18/19, 18/19, 4/18 respectively) (P=0.01, P=0.05, P=0.43 respectively). At 90 days, frequency of hyponatraemia (3/38) and hyperkalaemia (8/33) in GrpA was similar to GrpB (2/28, 2/16 respectively) (P=1, P=0.76 respectively) and GrpC (2/16, 4/16 respectively) (P=0.63, P=1 respectively). Total hospitalisation duration during the first 90 days in GrpA was 10d [0,29] vs 10d [2,40] in GrpB (P=0.23) and 16d [2,40] in GrpC (P=0.02).
Conclusion: Benefits of diagnosing CAH by NBS include earlier age at diagnosis, earlier treatment initiation, reduced pre-treatment biochemical disturbance and AC, and shorter hospitalisation; these may be particularly evident in boys. However, by 90 days those diagnosed by NBS showed no differences in biochemical abnormalities and post-treatment AC frequency vs other means.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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