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Impaired health status of CAH acquired, not determined
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Recent literature has emphasized the long-term health problems of adults with congenital adrenal hyperplasia. In a recent study, researchers in the United Kingdom reported that improved medical attention of the disease-causing mutation could lead to modified treatments.
By analyzing the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE), researchers were able to analyze the genotype as it relates to treatment and health status among 153 adults with congenital adrenal hyperplasia (CAH).
Nils Krone, MD, of the Centre for Endocrinology, Diabetes and Metabolism at the University of Birmingham, and colleagues discovered that in seven patients, a mutation was identified on only one allele; novel mutations were found on 1.7% of alleles (five of 306); and rare mutations were found on 2.3% of alleles (seven of 306).
Patients were categorized into CYP21A2 mutation groups based on predicted residual enzyme function: null (n=34); A (n=42); B (n=36); C (n=34); and D (n=7). From these groups, the researchers found that daily glucocorticoid dose was higher in the null group and lowest in group C. In patients with more severe genotypes, fludrocortisone was used more often, researchers wrote.
Therefore, they reported that most health problems in adult CAH with 21-hydroxylase deficiency under medical follow-up did not correlate with the severity of an underlying genetic CYP21A2 genotype.
These findings suggest that the impaired health status of adult patients with CAH could be improved through modification of treatment.
Disclosure:One of the researchers reports being a founding director and equity holder in Diurnal Ltd., which is developing new hydrocortisone preparations for patients with CAH.
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