Endocrine Abstracts

Introduction: There has recently been a suggested link between central adrenal insufficiency and the high rate of sudden death in children and adolescents with Prader–Willi syndrome (PWS). This finding has important implications for PWS management, since steroid cover could exacerbate the existing tendency towards obesity. We have retrospectively examined our data for both mortality and pituitary–adrenal axis status in subjects attending the dedicated PWS clinic at the Royal Hospital for Sick Children in Glasgow since 1991.

Methods: Case-note review of all patients in whom pituitary testing was carried out and cortisol responses to hypoglycaemia (insulin tolerance test) or synthetic ACTH recorded. A stimulated cortisol level of <500 nmol/l was considered indicative of adrenal insufficiency.

Results: Of the 69 patients who have attended the Glasgow clinic since its inception in 1991 7 have died, median (range) age of death 25.3 (14.8–40.8) years of which only one was unexpected (following pneumonia in a woman aged 40 years). Twenty-five patients (19M:6F) have undergone anterior pituitary stimulation testing, median (range) age 7.16 (0.43–16.27) years. Median (range) basal and peak cortisol were 328 (105–851) nmol/l and 915 (479–1481) nmol/l, respectively. There was no statistical difference between hypoglycaemia-induced or synacthen-induced basal (P=0.64) or peak values of cortisol (P=0.72). One patient showed a peak cortisol of 479 nmol/l in response to hypoglycaemia, while the remainder showed an adequate rise in cortisol.

Conclusion: In contrast to Roderick et al who reported an inadequate ACTH response to metyrapone in 60% of 25 patients, we found one patient with a borderline stimulated cortisol response. Given that steroids cause significant weight gain and that obesity is a major contributor to morbidity and mortality in PWS we caution against ad hoc steroid cover during intercurrent illness in this patient group.