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Treatment and health outcomes in adults with congenital adrenal hyperplasia

Key Points

  • The health status in adults with congenital adrenal hyperplasia (CAH) is impaired, with an increased incidence of obesity, hypertension, osteoporosis and reduced quality of life and fertility

  • The poor health status of adults with CAH seems to be a result of their treatment; therefore, patient care needs to be improved and hormone replacement therapy optimized

  • Potent synthetic and long-acting glucocorticoids should only be used in patients with a clinical indication, and the dose should be maintained at the lowest level for the shortest time possible

  • Increasing the dose of glucocorticoids does not necessarily result in improved disease control, but will probably have adverse health consequences

  • Hypertension is common, so mineralocorticoid replacement therapy should avoid suppressing plasma levels of renin below the normal range, and blood pressure should be monitored regularly in adults with CAH

Abstract

Congenital adrenal hyperplasia (CAH) is a genetic disorder caused by defective steroidogenesis that results in glucocorticoid deficiency; the most common underlying mutation is in the gene that encodes 21-hydroxylase. Life-saving glucocorticoid treatment was introduced in the 1950s, and the number of adult patients is now growing; however, no consensus has been reached on the management of CAH beyond childhood. Adult patients are prescribed a variety of glucocorticoids, including hydrocortisone, prednisone, prednisolone, dexamethasone and combinations of these drugs taken in either a circadian or reverse circadian regimen. Despite these personalized treatments, biochemical control of CAH is only achieved in approximately one-third of patients. Some patients have a poor health status, with an increased incidence of obesity and osteoporosis, and impaired fertility and quality of life. The majority of poor health outcomes seem to relate to inadequate treatment rather than the genotype of the patient. Patients receiving high doses of glucocorticoids and the more potent synthetic long-acting glucocorticoids are at an increased risk of obesity, insulin resistance and a reduced quality of life. Further research is required to optimize the treatment of adult patients with CAH and improve health outcomes.

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Figure 1: Treating congenital adrenal hyperplasia.
Figure 2: The adrenal steroidogenesis pathway.
Figure 3: Androstenedione and 17OHP in patients with congenital adrenal hyperplasia.
Figure 4: A comparison of treatment regimens in relation to biochemical disease control (serum levels of androstendione and 17OHP) and HOMA-IR as an indicator of insulin resistance in the congenital adrenal hyperplasia adult study executive cohort (ANOVA and post hoc analysis).
Figure 5: Association between type of glucocorticoid and QoL in the congenital adrenal hyperplasia adult study executive cohort.

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Acknowledgements

The authors are grateful to all of the co-investigators in the UK congenital adrenal hyperplasia adult study executive, which is supported by the Clinical Endocrinology Trust and the Society for Endocrinology. W. Arlt would like to acknowledge the support of the Medical Research Council UK (Program Grant G0900567) and the European Community (FP7 Collaborative Research Project DSD-Life). B. R. Walker would like to acknowledge the support of the British Heart Foundation.

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Correspondence to Richard J. Ross.

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R. J. Ross is a founding director and equity holder in Diurnal Ltd and W. Arlt is a consultant to Diurnal Ltd. The other authors declare no competing interests.

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Han, T., Walker, B., Arlt, W. et al. Treatment and health outcomes in adults with congenital adrenal hyperplasia. Nat Rev Endocrinol 10, 115–124 (2014). https://doi.org/10.1038/nrendo.2013.239

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