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Semin Reprod Med 2009; 27(4): 316-321
DOI: 10.1055/s-0029-1225259
© Thieme Medical Publishers

Cardiovascular Disease Risk in Adult Women with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Mimi S. Kim1 , Deborah P. Merke1
  • 1Reproductive Biology and Medicine Branch, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, and The National Institutes of Health Clinical Center, Bethesda, Maryland
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Publication History

Publication Date:
15 June 2009 (online)

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ABSTRACT

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by impaired cortisol biosynthesis, with or without aldosterone deficiency, and androgen excess. Patients with the classic (severe) form also have epinephrine deficiency. Patients with CAH have an increased prevalence of risk factors for cardiovascular disease including obesity, hypertension, and insulin resistance. Androgen excess in women appears to be an additional risk factor for cardiovascular disease. Carotid intima-media thickness, a measure of subclinical atherosclerosis, also has been found to be increased in adults with CAH. The multiple hormonal imbalances present in the adult woman with CAH, in combination with chronic glucocorticoid therapy, contribute to cardiovascular disease risk. Further investigation of the predisposition to cardiovascular disease in women with CAH is warranted. Longitudinal studies are needed, and interventions targeting obesity, insulin resistance, hypertension, and hyperandrogenism may offer improved outcome.

KEYWORDS

Cardiovascular risk - congenital adrenal hyperplasia - metabolic syndrome - hyperandrogenism

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Deborah P MerkeM.D. M.S. 

National Institutes of Health Clinical Center

10 Center Drive, Building 10, Room 1-2740, MSC 1932, Bethesda, MD 20892-1932

Email: dmerke@nih.gov

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