Endocrine Abstracts

Background: The most common form (90%) of CAH is 21-hydroxylase deficiency (21OHD). Management is with hydrocortisone ±fludrocortisone replacement while minimising side effects of androgen excess. Our aim was to review our CAH cohort and describe their characteristics, treatment regimens and growth.

Methods: Retrospective data on height, weight, BMI, bone age and biochemical profiles was collected on 26 patients with 21OHD (19 females and 7 males) between June 2021 and January 2023.

Results: Initial presentations included ambiguous genitalia (56%), precocious puberty (16%), adrenarche (15%) and salt-wasting (8%). Patients were reviewed clinically every 6 months on average and all patients had an emergency sick day plan in place. Patient characteristics are outlined in Table 1. 84% of patients were on a total daily hydrocortisone dose of 10–15 mg/m² per day with the highest dose typically given in the morning. Younger patients received a higher dose of fludrocortisone. 17-OHP and androstenedione were most frequently requested. Testosterone, renin and aldosterone were less consistently requested. Salivary 17-OHP was undertaken on 6/26 patients (23%). Bone ages were advanced with both salt-wasting (+1.46±2.55 SDS) and non-salt-wasting (+1.41±1.21 SDS) and markedly advanced in 2/4 patients not on hydrocortisone treatment (+2.93±2.11).

Discussion and conclusion: The majority of patients were on recommended doses of hydrocortisone. Two out of four of the patients not on hydrocortisone treatment (normal synacthen) had significantly advanced bone ages but height was not compromised. One of the patients was on anastrozole treatment only. Renin ± aldosterone was requested in 46.7% of patients on fludrocortisone but did not result in changes to treatment even when results were outside the reference range. 17-OHP salivary profiles were less frequently requested than blood 17-OHP, but allowed targeted treatment adjustments and should be considered a routine part of management in CAH.