ESPE Abstracts (2023) 97 FC1.6

ESPE2023 Free Communications Adrenals and HPA Axis (6 abstracts)

Cardiovascular risk profile in adult patients with congenital adrenal hyperplasia: a cross-sectional study

Y.G. van der Zwan 1 , M. Schrӧder 1,2 , N.M.M.L. Stikkelbroeck 3 , N. Reisch 4 , H. Falhammar 5 , N. Roeleveld 6 & H.L. Claahsen-van der Grinten 1

1Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands. 2b Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands. 3Department of endocrinology, internal medicine, Radboud University Medical Center, Nijmegen, Netherlands. 4Department of endocrinology, internal medicine, Ludwig-Maximilians-University of Munich, Munich, Germany. 5Department of endocrinology, Karolinska University Hospital, Stockholm, Sweden. 6Department for Health Evidence, Radboud University Medical Center, Nijmegen, Netherlands

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.

Objective: This study aimed to evaluate unfavorable changes in cardiovascular and metabolic risk factors in patients with 21OHD, with emphasize on post pubertal young adult patients. When present, it was aimed to examine the contribution of CAH-related parameters such as genotype, glucocorticoid and mineralocorticoid therapy (17-hydroxyprogesterone, androstenedione and renin levels) to these adverse effects.

Methods: A cross-sectional study was performed using data collected from the International multicenter DSD life study. Incidence of cardiovascular and metabolic risk factors (metabolic syndrome (MetS), hypertension, insulin resistance) were compared to healthy reference populations. Putative effects of CAH-related risk factors on cardiovascular morbidity were tested using Cox-proportional hazard analyses. Effects of sex (XX versus XY), smoking behavior, everyday activity, and practice of sports were considered.

Results: A total of 333 post pubertal 21OHD patients mean age 30.6 years (range 15-70 years) in 14 centres from six western-European countries were included. Of those, 192 were classified as young adults, mean age 22.4 years (range 15-30 years). Preliminary analyses showed that the incidence of metabolic syndrome (MetS; 31/230 (13.5%)), hypertension (88/310 (28.4%)), and insulin resistance (14/340 (4.1%)) were increased compared to reference populations. Up to the age of 30, the incidences of MetS (6/131) and insulin resistance (3/186) were low, but hypertension was already observed (33/167 (19.8%)). XY karyotype and smoking were associated with increased risk of MetS. Patients with salt-wasting 21OHD were 1.7 times more likely to develop hypertension in comparison to patients with simple virilizing. Plasma renin levels were not significantly correlated with the presence of hypertension. With or without adjustment for significant effect of smoking behavior and CAH phenotype, suppressed androstenedione (but not 17-hydroxyprogesterone) below the normal limit was associated with increased risk for hypertension. No CAH related risk factors for insulin resistance were identified.

Conclusions: Preliminary analyses showed increased incidence of metabolic and cardiovascular risk factors in adults with 21OHD. Increased incidence of hypertension, already observed in young adults, was associated with suppressed androstenedione levels. This association may reflect (reversable) glucocorticoid and/or mineralocorticoid overtreatment and not reflect long-term morbidity, suggesting that the adverse cardiovascular and metabolic risk profile does not arise before midlife.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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