Cardiovascular dysfunction risk in young adults with congenital adrenal hyperplasia caused by 21-hydroxylase enzyme

Juliano Henrique Borges1, Renata Isa Santoro2, Daniel Minutti de Oliveira3

  • 1Laboratory of Growth and Development (LabCreD), Center for Investigation in Pediatrics (CIPED), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Brazil.

Abstract

Insights

Congenital adrenal hyperplasia (CAH) patients showed no cardiovascular dysfunction. However, higher glucocorticoid doses in females correlated with cardiac and vascular changes, suggesting a potential role in hypertrophy and atherosclerosis.

Area of Science:

  • Endocrinology
  • Cardiology
  • Genetics

Background:

  • Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OHase) deficiency is a genetic disorder.
  • The impact of CAH treatment on cardiovascular health in young adults is not well understood.
  • This study investigates cardiac and vascular parameters in young adults with CAH.

Purpose of the Study:

  • To evaluate myocardial function, vascular structures, and epicardial fat thickness in young adults with CAH.
  • To analyze the correlation between glucocorticoid therapy (duration and dose) and cardiovascular parameters.
  • To identify potential cardiovascular risks associated with CAH and its treatment.

Main Methods:

  • A case-control study involving 20 young adults with CAH (18-31 years) and 16 healthy controls.
  • High-resolution ultrasound and echocardiography were used for cardiovascular assessments.
  • Statistical analyses, including multiple linear regression, were performed to identify correlations.

Main Results:

  • No significant differences in overall myocardial function, vascular structures, or epicardial fat were found between CAH patients and controls.
  • Female CAH patients exhibited impaired left ventricular end-diastolic diameter compared to controls, though values remained within the normal range.
  • In female patients, higher daily glucocorticoid doses correlated with increased left ventricular posterior wall thickness, left ventricular end-diastolic diameter, aortic diameter, and carotid intima-media thickness.

Conclusions:

  • Young adults with CAH do not exhibit overt signs of cardiovascular dysfunction.
  • Elevated glucocorticoid dosage, independent of treatment duration, may be linked to cardiac hypertrophy, left ventricular and aortic dilation, and subclinical atherosclerosis.
  • Further research is warranted to elucidate the long-term cardiovascular implications of CAH treatment.

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