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Clinical practice

CAH Adult Study Executive

Congenital Adrenal Hyperplasia (CAH), one of the most common inherited diseases that affects 1:15,000 live births.

What is CAH?

Classic congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD-CAH), is a genetic disorder of steroidogenesis affecting ~1:15,000 live births (1). Lack of 21-hydroxylase causes cortisol deficiency and resultant elevated pituitary adrenocortico-tropic hormone (ACTH), which drives overproduction of adrenal androgens, adrenal hyperplasia and long term adrenal nodules. Patients with 21-OHD-CAH have two major problems: adrenal insufficiency and androgen excess. Adrenal insufficiency causes life threatening adrenal crises, while androgen excess causes atypical genitalia in 46,XX neonates, promotes abnormal growth, short stature and precocious puberty, and in adulthood, virilisation of women and infertility in both sexes (1). Treatment aims to replace cortisol, and, where necessary, aldosterone.

What is CaHASE?

An audit of adults with CAH in the UK conducted by the Society for Endocrinology revealed a lack of a consensus on the best treatment for adults with CAH (UK Audit of Adult Congenital Adrenal Hyperplasia Care. J. Endocrinol 164 suppl: S38). CAH was therefore identified as an area that required further research into the day-to-day management of adults with CAH. The Society for Endocrinology, with a grant from the Clinical Endocrinology Trust, set up CaHASE in 2003 under the chairmanship of Professor Richard Ross (Sheffield). It specifically undertook research to look at current management and health outcomes of adult patients with congenital adrenal hyperplasia. Specialist endocrinology centres around the UK participated in what at that time was the largest multi-centre prospective research study on CAH. The main impact from this study was the recognition that adults with CAH had poor health outcomes on current therapy (2). CaHASE has collaborated to develop the I-CAH registry, and continues to work together to improve the health outcomes of patients with CAH.

What is I-CAH?

The I-CAH Registry provides the means of connecting clinical and research centres around the world and allows these centres to enter standardised information aimed at improving clinical practice, research and understanding of conditions affecting sex development.

References

  1. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365:2125-2136
  2. 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 JMC, Ross RJ, Adrenal UKC. Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients. Journal of Clinical Endocrinology & Metabolism 2010; 95:5110-5121

 

Publications

  1. Alwashih MA, Watson DG, Andrew R, Stimson RH, Alossaimi M, Blackburn G, Walker BR. Plasma metabolomic profile varies with glucocorticoid dose in patients with congenital adrenal hyperplasia. Scientific reports 2017; 7:17092
  2. 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, United Kingdom Congenital Adrenal Hyperplasia Adult Study E. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab 2010; 95:5110-5121
  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. Clinical Endocrinology 2012;
  4. Han TS, Conway GS, Willis DS, Krone N, Rees DA, Stimson RH, Arlt W, Walker BR, Ross RJ, United Kingdom Congenital Adrenal Hyperplasia Adult Study E. Relationship between final height and health outcomes in adults with congenital adrenal hyperplasia: United Kingdom congenital adrenal hyperplasia adult study executive (CaHASE). J Clin Endocrinol Metab 2014; 99:E1547-1555
  5. Han TS, Krone N, Willis DS, Conway GS, Hahner S, Rees DA, Stimson RH, Walker BR, Arlt W, Ross RJ, United Kingdom Congenital adrenal Hyperplasia Adult Study E. 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
  6. Han TS, Stimson RH, Rees DA, Krone N, Willis DS, Conway GS, Arlt W, Walker BR, Ross RJ, United Kingdom Congenital adrenal Hyperplasia Adult Study E. Glucocorticoid treatment regimen and health outcomes in adults with congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 2013; 78:197-203
  7. 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, United Kingdom Congenital adrenal Hyperplasia Adult Study E. 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:E346-354
  8. Krone N, Willis DS, Rose IT, Crosby C, Wild SH, Doherty EJ, Hahner S, Han TS, Stimson RH, Carroll PV, Conway GS, Rees DA, Walker BR, MacDonald F, Ross RJ, Arlt W, Adrenal UKC. Current management, morbidity and genotype-phenotype correlation in adults with congenital adrenal hyperplasia - analysis of the United Kingdom congenital adrenal hyperplasia adult study executive (CaHASE) cohort. Hormone Research 2009; 72:41-41
  9. Ross RJ. CaHASE: a Specialist Society Led Academic Collaboration to improve the management of CAH. Clin Endocrinol (Oxf) 2014; 81:334-335