Endocrine Abstracts (2013) 33 S2.1 | DOI: 10.1530/endoabs.33.S2.1

CaHASE: a UK collaborative study on CAH in adults

R Ross


Sheffield, UK.


Congenital adrenal hyperplasia (CAH) is a genetic disorder arising from defective steroidogenesis resulting in glucocorticoid deficiency; the commonest mutation is in the gene encoding 21-hydroxylase. Lifesaving glucocorticoid treatment was introduced in the 1950s and there is now an enlarging cohort of adult patients; however, there is no consensus on management. To address this issue, the Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) was formed in 2003 to study the health status of CAH patients in adulthood. Seventeen specialist Endocrinology centres around the United Kingdom recruited a cohort of 203 adult patients and gathered information on medical treatment, fertility, genetic analysis and quality of life (QoL). The CaHASE study found that adult patients are prescribed a variety of glucocorticoids including hydrocortisone, prednisone, prednisolone, dexamethasone, and combinations taken in either a circadian or reverse circadian regimen. Despite this variety in personalized treatment regimens biochemical control of CAH is only achieved in approximately a third of patients. There is evidence for poor health status in some patients with an increased incidence of obesity and osteoporosis, and impaired fertility and quality of life. The evidence suggests that these poor health outcomes relate to treatment rather than genotype. Patients receiving higher doses of glucocorticoids and the more potent synthetic glucocorticoids are more likely to suffer from obesity, insulin resistance and a reduced quality of life. Further research is required to determine whether improving management and treatment in CAH patients can improve their health.

References from CaHASE Cohort study: (1–4): 1. Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM & Ross RJ. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab 2010 95 5110–5121.

2. Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS, Carroll PV, Conway GS, Walker BR, MacDonald F, Ross RJ & Arlt W. Genotype–phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort. J Clin Endocrinol Metab 2013 98 E346–E354.

3. Han T, Stimson R, Rees D, Krone N, Willis D, Conway G, Arlt W, Walker B & Ross R. Glucocorticoid treatment regimen and health outcomes in adults with congenital adrenal hyperplasia. Clin Endocrinol 2012.

4. Han TS, Krone N, Willis DS, Conway GS, Hahner S, Rees DA, Stimson RH, Walker BR, Arlt W & Ross RJ. Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE). Eur J Endocrinol 2013 168 887–893.

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