No guidelines exist for the management of Congenital Adrenal Hyperplasia (CAH) in adults. With no ideal glucocorticoid regimen to replicate normal physiology, best practice remains unclear. Concerns have been raised regarding overtreatment, particularly with longer acting steroids, and potential adverse effects on body composition and bone mineral density (BMD).
We examined the case records of all 35 patients currently under review in our unit. Mean±S.D. age was 36.4±8.8 years, 11 male, 24 female. 16/35 (46%) had the classical salt wasting form (SW), all of whom were diagnosed before age 4 months. 13/35 (37%) were classified as simple virilising (SV), with a median age at diagnosis 3.0 years. 6 females (17%) had non-classic or late-onset disease (NC), median age at diagnosis 18.0 years.
Prednisolone, used in 14/35 (40%) patients, was the commonest maintenance glucocorticoid. Dexamethasone (10/35, 29%), hydrocortisone (8/35, 23%) and cortisone acetate (2/35, 6%) were also used. One patient was untreated. BMI and BP were 29.1±5.7kg/m2 and 124/77±15/10 mmHg respectively.
Treatment was monitored by measuring 17-OHP (median 20 nmol/L, range <1224 nmol/L), ACTH (median 11 ng/ml, range <10198 ng/ml) and androstendione (median 2.2 nmol/L, range <0.312.2).
DEXA assessment of BMD in 23/35 patients with a median age 35 years, range 2757 years (9 male, 14 female) demonstrated T scores at the lumbar spine 1.0 (median, range −2.8 to +1.2) and left femur −0.8 (median, range −2 to +0.9).
Long term follow-up of CAH into middle adulthood is limited with, in particular, conflicting data on BMD. We found a high incidence of osteopaenia and obesity in our established clinic population. We use a variety of glucocorticoids with nearly 70% on a long acting preparation, potentially increasing the risk of steroid over-exposure.