ECE2022 Poster Presentations Adrenal and Cardiovascular Endocrinology (87 abstracts)
Long-term cardiometabolic morbidity in young adults wWith classic 21-hydroxylase deficiency congenital adrenal hyperplasia
Beatrice Righi 1 , Salma Rashid Ali 1,2 , Jillian Bryce 2 , Jeremy Tolinson 3 , Walter Bonfig 4,5 , Federico Baronio 6 , Eduardo C Costa 7 , Guilherme Guaragna-Filho 8 , Guy T’Sjoen 9 , Martine Cools 10 , Renata Markosyan 11 , Tania A S S Bachega 12 , Mirela C Miranda 12 , Violeta Iotova 13 , Henrik Falhammar 14,15 , Filippo Ceccato 16 , Eleni Daniel 17 , Richard Auchus 18 , Richard Ross 17 & Faisal Ahmed 1
1Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital For Sick Children, Yorkhill, Glasgow, UK; 2Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK, United Kingdom; 3Oxford Centre for Diabetes, Endocrinology & Metabolism, NIHR Oxford Biomedical Research Centre, Churchill Hospital, University of Oxford, Oxford, UK; 4Department of Paediatrics, Technical University München, Munich, Germany; 5Department of Paediatrics, Klinikum Wels-Grieskirchen, Wels, Austria; 6Pediatric Unit, Department Hospital of Woman And Child, IRCSS S. Orsola-Malpighi University Hospital, Bologna, Italy; 7Pediatric Surgery Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; 8Department of Pediatrics, School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil; 9Department of Endocrinology - Center for Sexology and Gender, Ghent University Hospital, Ghent, Belgium; 10Department of Internal Medicine and Paediatrics, Ghent University and Pediatric Endocrinology Service, Ghent University Hospital, Ghent, Belgium; 11Endocrinology, Yerevan State Medical University Endocrinology Clinic, Yerevan, Armenia; 12Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Disciplina de Endocrinologia, Hospital Das Clinicas, Faculdade De Medicina, Universidade de São Paulo, São Paulo, Brazil; 13UMHAT Sveta Marina, Medical University of Varna, Varna, Bulgaria; 14Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden; 15Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden; 16Endocrinology Unit, Department of Medicine DIMED, University-Hospital of Padua, Padua, Italy; 17Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK; 18Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI, USA
Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.
Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hydroxylase CAH and to assess the prevalence of cardiometabolic morbidity.
Methods: Data were collected using a structured questionnaire sent between January and August 2020 to 46 centres managing adults with CAH within three overlapping networks: International Congenital Adrenal Hyperplasia (I-CAH) Registry, CaH Adult Study Executive (CaHASE) Consortium UK and European Reference Network on Rare Endocrine Conditions (Endo-ERN). Information collected included current therapy and surveillance practice of adults with CAH particularly focusing on cardiometabolic conditions.
Results: Of the 31 (67%) centres from 15 countries that completed the survey, 30 (97%) screened for hypertension by measuring blood pressure, 30 (97%) screened for obesity by mainly using BMI (90%) and weight (83%), 26 (84%) screened for abnormal glucose homeostasis by mainly using Hb1Ac (73%) or fasting plasma glucose (50%), 25 (81%) screened for osteoporosis mainly by DXA (92%), 20 (65%) screened for hyperlipidaemia using fasting lipids and 6 (19%) routinely screened patients for additional CV disease. Of the 31 centres, 12 provided more information on 235 patients with a median age of 33 yrs (range 19,94). Of these, 121 (51%) were females and 165 (70%) took fludrocortisone in addition to glucocorticoids which included prednisolone (42%), hydrocortisone (34%), dexamethasone (9%) or a combination (13%). Of 235 adults, 73 (31%) were on therapy for at least one of the six cardiometabolic comorbidities; of these 73, 15 (21%) were treated for more than 2 comorbidities. Of 73, the number of patients who received therapy for osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity was 43 (59%), 17 (23%), 16 (22%), 10 (14%), 8 (11), 3(4%) respectively. The median age at start of these therapies was 34 (18, 63), 55 (19,79), 26 (14,78), 55(39,72), 65(55,72), 24(19,28) respectively. For some conditions such as hypertension there was a wide range of drugs used (6 drugs in 10 patients).
Conclusions: Cardiometabolic morbidities are not uncommon in adults with CAH. There is a need for greater standardisation of the screening for these morbidities from early adulthood and a need to explore optimal therapy through routine collection of standardised data.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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