Endocrine Abstracts

JOINT3870

Introduction: CAH is a heterogeneous collection of rare congenital diseases. Historically, numerous studies have highlighted suboptimal care for patients with these conditions, with guidelines aimed to improve physical health and quality of life, and reduce complications, and as with most rare diseases, suggestion that care is best provided at dedicated clinics and the transition process is a key feature.

Aim: To review the care of patients with CAH at our centre (a District General Hospital)

Methods: The biochemistry database was interrogated to find all patients who had a measurement of 17 OHP over the last 5 years. Patients records were then checked to identify all patients with confirmed CAH (excluding non-classical), and data including mode of referral, laboratory results, treatment, scans and mental health comorbidities collected for these patients.

Results: 13 patients were identified, with one exclusion due to being under the paediatric team. Male:female ratio was 4:8. 5/12 had 21-hydroxylase deficiency, in all others the genotype was unknown. 8 patients were looked after historically for >10 years at the centre, 3 referred directly from tertiary paediatric clinics and 1 re-referred after being lost to the transition process. Treatment was with prednisolone in 7/12, hydrocortisone 3/12 and dexamethasone 2/12. None were treated with modified release hydrocortisone or combination therapy. All patients has annual checks for testosterone, 17-OHP, androstenedione, gonadotrophins, U+Es and aldosterone/renin ratio. 8/12 patients had elevated 17-OHP levels, with 4/12 within the reference range. All patients had measurement of lipids, glycaemic assessment and BP checked annually. BMI was checked in 11/12 patients. Only one of the male patients had US assessment for TARTS in the preceding 2 years. Emergency hydrocortisone kits were documented for 10/12 patients, 11/12 patients had the NHS Steroid Alert Card. No patients had been admitted in a hypoadrenal crisis in the preceding 5 years. 8/12 patients had bone densitometry assessed (the younger patients being excluded). 2/10 patients had mental health problems. Care was provided by a total of 4 consultants (three cared for one patient each).

Discussion: Patient preference plays a key part in the location of care for some patients with CAH, and not all want to travel to specialist clinics. Biochemical assessment and radiological assessment was acceptable but not complete in some cases. A single consultant overseeing all cases and a checklist may help address gaps. Patients with CAH in DGHs need access to newer therapies via education for caregivers and research opportunities.