ESPE2021 ePoster Category 1 Adrenal A (10 abstracts)
International practice of therapy monitoring in congenital adrenal hyperplasia – Real World data from the I-CAH registry
Neil Lawrence 1,2 , Irina Bacila 1 , Jeremy Dawson 3 , Jillian Bryce 4 , Erica van den Akker 5 , Tânia Aparecida Sartori Sanchez Bachega 6 , Federico Baronio 7 , Niels Holtum Birkebæk 8 , Walter Bonfig 9,10 , Hedi Claahsen 11 , Eduardo Correa Costa 12 , Liat Devries 13 , Heba Elsedfy 14 , Ayla Guven 15 , Sabine Hannema 16 , Violeta Iotova 17 , Hetty J van der Kamp 18 , Maria Clemente Leon 19 , Corina Raducanu Lichiardopol 20 , Tatjana Milenkovic 21 , Uta Neumann 22 , Ana Nordenström 23,24 , Sukran Poyrazoglu 25 , Ursina Probst-Scheidegger 26 , Luisa De Sanctis 27 , Ajay Thankamony 28,29 , Ana Vieites 30 , Zehra Yavas 31 , Faisal Ahmed 4 & Nils Krone 1,2
1Department of Oncology and Metabolism,The University Of Sheffield, Sheffield, United Kingdom; 2Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, United Kingdom; 3Institute of Work Psychology, Sheffield University Management School, Sheffield, United Kingdom; 4Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom; 5Department of Pediatric Endocrinology, Sophia Children’s Hospital, Erasmus Medical Centre, Rotterdam, Netherlands; 6Department of Internal Medicine, University of Sao Paulo, Sao Paulo, Brazil; 7Department of Medical and Surgical Sciences, Pediatric Unit, Endo-ERN Center for Rare Endocrine Diseases, S.Orsola-Malpighi University Hospital, Bologna, Italy; 8Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark; 9Department of Pediatrics, Technical University Munich, Munich, Germany; 10Department of Pediatrics, Klinikum Wels-Grieskirchen, Wels, Austria; 11Department of Pediatric Endocrinology, Radboud University Medical Centre, Nijmegen, Netherlands; 12Pediatric Surgery Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; 13Institute for Diabetes and Endocrinology, Schneider’s Children Medical Center of Israel, Petah-Tikvah, Israel; 14Pediatrics Department, Ain Shams University, Cairo, Egypt; 15Pediatric Endocrinology, Baskent University İstanbul Hospital, Istanbul, Turkey; 16Department of Paediatrics, Leiden University Medical Centre, Leiden, Netherlands; 17Department of Paediatrics, Medical University of Varna, Varna, Bulgaria; 18Pediatric Endocrinology Wilhelmina Children’s Hospital, University Medical Centre Utrecht, Utrecht, Netherlands; 19Servicio de Endocrinología pediátrica. Hospital Universitario Vall d’Hebron. CIBER de Enfermedades Raras (CIBERER) ISCIII, Barcelona, Spain; 20Department of Endocrinology, University of Medicine and Pharmacy Craiova, Craiova, Romania; 21Department of Endocrinology, Institute for Mother and Child Healthcare of Serbia “Dr Vukan Čupić”, Belgrade, Serbia; 22Institute for Experimental Pediatric Endocrinology and Center for Chronically Sick Children, Charite - Universitätsmedizin, Berlin, Germany; 23Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; 24Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden; 25Paediatric Endocrinology Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey; 26Pediatric Department, Kantonsspital Winterthur, Winterthur, Switzerland; 27Department of Paediatric Endocrinology, Regina Margherita Children’s Hospital, University of Torino, Torino, Italy; 28Department of Pediatrics, University of Cambridge, Cambridge, United Kingdom; 29Biomedical Campus, Cambridge, United Kingdom; 30Centro de Investigaciones Endocrinológicas (CEDIE-CONICET), Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina; 31Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey
Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.
Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarker data from the International-CAH Registry. Data was available from 345 patients (52% females) under 18 years (median age 4.3 years IQR (Interquartile Range) 3.1 to 9.2 years) with classic 21-hydroxylase deficiency under follow-up between 2000 to 2020.
Results: Analysing each patient’s most recent biomarkers, median 17OHP for males was 33.0 nmol/l (n = 160, IQR: 6.0, 93.2), 17.5% values within and 49.4% above target. For females, median 17OHP was 40.0nmol/l (n = 180, IQR: 3.0, 120.3), no different to males (P > 0.05), 14.4% within and 50.6% above target. 17OHP did not vary with age, but D4 increased by 0.95nmol/l per year of age in males (intercept = -1.61, R2 = 0.17, P < 0.001) and 0.57nmol/l per year of age in females (intercept = 2.0, R2 = 0.06, P = 0.003). In children under 12 years, median D4 in males and females was 0 nmol/l (n = 127, IQR: 0, 2.0) and 0 nmol/l (n = 116, IQR: 0, 2.0), respectively, whereas in those over 12 years, median D4 in males and females was 10.2 nmol/l (n = 22 IQR: 4.0, 24.4) and 11.0 nmol/l (n = 33 IQR: 3.9, 18.0), respectively. There was no difference in median 17OHP or D4 concentrations in the last 20 years (comparison of 5 year periods, P > 0.05). Comparing centres with over 10 readings available, there were differences in median 17OHP in both sexes, ranging from 0.7 nmol/l (IQR: 0.03, 40.7) up to 104.4 nmol/l (IQR: 47.7, 242.1), (P < 0.01), but no significant difference between D4 readings in those under or over 12 years (P > 0.05). Where paired readings were available, 17OHP correlated with D4 in both male patients (R2=0.18, P < 0.001) and female patients (R2 = 0.21, P < 0.001)
Conclusions: Data from the I-CAH Registry show large variability in 17OHP and D4, with 17OHP most commonly above target range and D4 concentrations varying with age, and significant variability in 17OHP between centres. Concordance between the biomarkers suggests both have utility in disease monitoring. Further research is needed to establish optimal age- and sex-specific D4 targets in patients with CAH, to develop strategies for using these biomarkers in combination as monitoring tools, and to work towards standardising treatment to reduce unwarranted variation.
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