Patients with congenital adrenal hyperplasia (CAH) appear to have adverse cardiovascular risk profile and other long-term health problems in adult life, but there are limited data in young CAH patients. We aim to evaluate the cardio-metabolic risk factors in adolescents and young adults with classical 21-hydroxylase deficiency (21-OHD). We performed a cross-sectional study of 21 patients (17 females) with classic CAH detected clinically and not through newborn screening, aged 15.2 ± 5.8 years, and 21 healthy matched controls. Anthropometric, biochemical, inflammatory markers, and body composition using dual-energy X-ray absorptiometry were measured. Obesity was observed in 33% of the CAH patients. The waist/hip ratio and waist/height ratio were significantly higher in CAH patients. Five out of 21 patients (24%) had elevated blood pressure. Silent diabetes was diagnosed in one patient (4.8%), but none in the control group. Serum leptin and interleukin-6 levels were not different between groups, but hs-CRP levels tended to be higher in CAH patients. Other metabolic profiles and body composition were similar in CAH and controls.
Conclusion: Adolescents and young adults with CAH appear to have an increased risk of obesity and cardio-metabolic risk factors. Close monitoring, early identification, and secondary prevention should be implemented during pediatric care to improve the long-term health outcomes in CAH patients.
What is Known:
• Lifelong glucocorticoid (GC) replacement is the main treatment modality in patients with congenital adrenal hyperplasia which predispose to an adverse metabolic profile.
• Adult CAH patients have adverse cardiovascular risk profile and other long-term health problems.
What is New:
• Adolescents and young adults with CAH appear to have an increased risk of obesity and cardio-metabolic risk factors.
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Bone mineral content
Bone mineral density
Congenital adrenal hyperplasia
Dual-energy X-ray absorptiometry
Fasting blood glucose
Hemoglobin A1c or glycosylated hemoglobin A protein
Homeostasis model assessment of insulin resistance
High-sensitivity C-reactive protein
Oral glucose tolerance test
Standard deviation scores
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We would like to thank the patients and their families for their participation in this study. This study was supported by the Ratchadapiseksompotch Fund (RA57/048), Faculty of Medicine, Chulalongkorn University and the Thailand Research Fund (IRG5780015).
KA and TS had the core idea for this study. All authors either analyzed the data or interpreted the results. KA wrote the draft of the article. All other authors participated in the review of the literature, text editing, and finalization of the manuscript. All authors read and approved the final manuscript.
All procedures were performed according to the Declaration of Helsinki and approved by the Ethics Committee, Faculty of Medicine, Chulalongkorn University. Written informed consent was obtained from the patient and/or the patient’s parent for their participation in this study.
Conflict of interest
The authors declare that they have no conflict of interest.
Communicated by Beat Steinmann
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Ariyawatkul, K., Tepmongkol, S., Aroonparkmongkol, S. et al. Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency. Eur J Pediatr 176, 537–545 (2017). https://doi.org/10.1007/s00431-017-2875-2
- Congenital adrenal hyperplasia
- Metabolic syndrome
- Body composition
- Cardiovascular risk factors