• Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia

      Righi, B.; Ali, S. R.; Bryce, J.; Tomlinson, J. W.; Bonfig, W.; Baronio, F.; Costa, E. C.; Guaragna, G.; T'Sjoen, G.; Cools, M.; et al. (2021)
      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 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 with emphasis on cardiometabolic conditions. Results: Thirty-one (67%) centres from 15 countries completed the survey. Thirty (97%) centres screened patients for hypertension by measuring blood pressure during clinical routine examination. Thirty (97%) screened for obesity by mainly using BMI (87%) and weight (81%). Twenty-six (84%) centres screened for abnormal glucose homeostasis by mainly using Hb1Ac (61%) and fasting plasma glucose (42%). Twenty-five (81%) centres screened for osteoporosis mainly by using DXA scans (74%). Twenty (65%) centres screened for hyperlipidaemia using fasting lipids. Five (19%) routinely screened patients for other CV disease. Out of 255 adults with a median age of 32 yrs (range, 19,94) from 13 centres, 93 (36%) had obesity/overweight, 58 (23%) osteoporosis/osteopenia, 50 (20%) hyperlipidaemia, 20 (8%) T2DM/hyperinsulinaemia, 18 (7%) hypertension and 10 (4%) CV disease. Of these 255, 78 (30%) were receiving therapy for cardiometabolic morbidity and, of these, 17 (7%) were treated for 2 or more comorbidities. Of the total affected by each comorbidity, the number of patients who received therapy for obesity/ overweight, osteoporosis/osteopenia, hyperlipidaemia, hypertension, CV disease and T2DM/ hyperinsulinaemia was 3 (3%), 43 (74%), 17 (34%), 10 (56%), 8 (80%) and 18 (90%), respectively. The median age at start of therapy for obesity/overweight, osteoporosis/osteopenia, hyperlipidaemia, hypertension/CV disease and T2DM/ hyperinsulinaemia was 27 yrs (17,55), 34 (18,63), 55 (19,79), 57 (39,72) and 27 (14,78), respectively. For some conditions such as hypertension there was a wide range of drugs used (8 drugs in 18 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 there is a need to explore optimal therapy through routine collection of standardised data.