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.
Righi, B.
Ali, S. R.
Bryce, J.
Tomlinson, J. W.
Bonfig, W.
Baronio, F.
Costa, E. C.
Guaragna, G.
T'Sjoen, G.
Cools, M.
Citations
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Abstract
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.
Authors
Righi, B.
Ali, S. R.
Bryce, J.
Tomlinson, J. W.
Bonfig, W.
Baronio, F.
Costa, E. C.
Guaragna, G.
T'Sjoen, G.
Cools, M.
Markosyan, R.
Bachega, T.
Miranda, M. C.
Iotova, V.
Falhammar, H.
Ceccato, F.
Stancampiano, M. R.
Russo, G.
Vukovic, R.
Giordano, R.
Mazen, I.
Guven, A.
Darendeliler, F.
Poyrazoglu, S.
de Vries, L.
Ellaithi, M.
Daniel, E.
Johnston, C.
Hunter, S. J.
Carroll, P. V.
Adam, Safwaan
Perry, C. G.
Kearney, T.
Abraham, P.
Rees, D. A.
Leese, G. P.
Reisch, N.
Stikkelbroeck, N.
Auchus, R. J.
Ross, R. J.
Ahmed, S. F.
Ali, S. R.
Bryce, J.
Tomlinson, J. W.
Bonfig, W.
Baronio, F.
Costa, E. C.
Guaragna, G.
T'Sjoen, G.
Cools, M.
Markosyan, R.
Bachega, T.
Miranda, M. C.
Iotova, V.
Falhammar, H.
Ceccato, F.
Stancampiano, M. R.
Russo, G.
Vukovic, R.
Giordano, R.
Mazen, I.
Guven, A.
Darendeliler, F.
Poyrazoglu, S.
de Vries, L.
Ellaithi, M.
Daniel, E.
Johnston, C.
Hunter, S. J.
Carroll, P. V.
Adam, Safwaan
Perry, C. G.
Kearney, T.
Abraham, P.
Rees, D. A.
Leese, G. P.
Reisch, N.
Stikkelbroeck, N.
Auchus, R. J.
Ross, R. J.
Ahmed, S. F.
Description
Date
2021
Publisher
Collections
Keywords
Type
Other
Citation
Righi B, Ali SR, Bryce J, Tomlinson JW, Bonfig W, Baronio F, et al. Long-Term Cardiometabolic Morbidity in Young Adults with Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. Hormone Research in Paediatrics. 2021;94(SUPPL 1):69-70.