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Congenital adrenal hyperplasia increases risk for CV, metabolic morbidity
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Individuals with congenital adrenal hyperplasia are at greater risk for cardiovascular and metabolic morbidity, with the highest risk seen in women and girls and in men and boys with certain genotypes, according to research in The Journal of Clinical Endocrinology & Metabolism.
In a study comparing Swedish patients with congenital adrenal hyperplasia (CAH) with healthy controls, researchers also found an increased frequency of diabetes in the CAH cohort, especially in females.
Henrik Falhammar
Henrik Falhammar, MD, PhD, of the department of endocrinology, metabolism and diabetes at Karolinska University Hospital in Stockholm, and colleagues analyzed data from 588 patients born between 1910 and 2009 (335 female; mean age, 26 years) with CAH compared with 58,800 controls matched for sex, year and place of birth from the Total Population Register. Within the CAH cohort, participants were categorized by one of three phenotypes, and those with a known CYP21A2 mutation were assigned to one of five genotype categories.
Researchers analyzed subgroups based on sex, clinical severity and CYP21A2 genotype, stratified by the introduction of neonatal screening, age groups and non-obesity.
Researchers found an increased OR for any CV and metabolic disorders in all CAH participants compared with controls, with an OR of 3.9 for the cohort (95% CI, 3.1-5.), 4.4 for females (95% CI, 3.2-6) and 3.3 for males (95% CI, 2.3-4.9). The increase remained significant on the subgroup level for the salt-wasting phenotype in both sexes, in the simple virilizing phenotype for females only and in the nonclassic phenotype for both sexes, as well as the null genotype for males, I172N genotype for females and P30L genotype for males.
Researchers also found that 16.3% of patients with CAH and obesity had CVD compared with 4% of CAH patients without obesity (OR = 4.6; 95% CI, 1.9-11.5), and that obesity was most pronounced in the nonclassic phenotype.
Diabetes also was more prevalent in the CAH cohort, with an OR of 3 (95% CI, 1.6-5.8) compared with controls.
“When stratifying the cohort into different age groups, all age groups were equally affected by any [CV] and metabolic disorder,” the researchers wrote. “However, the older age groups also had an increased risk of [CVD] while the younger mainly were affected by obesity and thyrotoxicosis; females also had more hypertension and males [had more] hypothyroidism compared to controls.”
The researchers noted that patients born after the introduction of neonatal CAH screening seemed to be less affected than those born before screening, which could indicate a benefit of early diagnosis or improved corticosteroid therapy in recent years.
“Regular follow-up is needed with lifestyle intervention to limit the onset of weight gain and obesity, screening for diabetes, other metabolic disorders and [CV] risk factors,” the researchers wrote. “Close monitoring of glucocorticoid doses is important.” – by Regina Schaffer
Disclosure: The researchers report no relevant financial disclosures.
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