Background: Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder, affecting 1 in 18 000 UK births. The 2010 CaHASE Study identified a myriad of health problems associated with CAH and its treatment, and a lack of consensus on treatment strategies in adults. Endocrine Society guidelines (2010, revised 2018) have since been published to support management. As one of the original CaHASE centres, we have audited our recent practice against these new standards.
Methods: Data was collected retrospectively from online records available from 2014 to February 2019. Patients with a diagnosis of CAH attending our hospital were identified through coding. Only those with a diagnosis of classical 21-hydroxylase deficiency were included. Local approvals were obtained.
Results: 24 patients were included (15F, 9M; mean age 38.8 years, range 2176). 8 patients were treated with hydrocortisone, 3 with dexamethasone, 4 with prednisolone and 9 with a combination. The average hydrocortisone equivalent dose was 21.7 mg (6.746 mg). Only 42% of patients underwent recommended biochemical testing at their last clinic visit. On the basis of androstenedione and 17-hydroxyprogesterone recommendations, 37.5% appeared undertreated, 12.5% overtreated, and 12.5% around target. There was electronic documentation of blood pressure in 75%, and BMI in 17%. 79% and 58% underwent screening for diabetes and hyperlipidaemia respectively. 62.5% of patients had undergone bone densitometry (20% osteoporotic, 40% osteopenic). Although only 56% of males underwent testicular ultrasound, 80% of these had evidence of adrenal rest tissue. Whilst 96% of patients had sick day education, only 54% had evidence of parenteral steroid provision.
Recommendations: CAH is a complex condition and patients require careful monitoring and tailoring of treatment. We have found that complication rates in the patient cohort studied were high. Having identified some areas for improvement we plan to develop a clinic proforma to streamline and improve patient care.