Central Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome

Context

Prader–Willi syndrome (PWS) is associated with several hypothalamic-pituitary hormone deficiencies. There is no agreement on the prevalence of central adrenal insufficiency (CAI) in adults with PWS. In some countries, it is general practice to prescribe stress-dose hydrocortisone during physical or psychological stress in patients with PWS. Side effects of frequent hydrocortisone use are weight gain, osteoporosis, diabetes mellitus, and hypertension—already major problems in adults with PWS. However, undertreatment of CAI can cause significant morbidity—or even mortality.

Objective

To prevent both over- and undertreatment with hydrocortisone, we assessed the prevalence of CAI in a large international cohort of adults with PWS. As the synacthen test shows variable results in PWS, we only use the metyrapone test (MTP) and insulin tolerance test (ITT).

Design

Metyrapone test or ITT in adults with PWS (N = 82) and review of medical files for symptoms of hypocortisolism related to surgery (N = 645).

Setting

Outpatient clinic.

Patients or Other Participants

Eighty-two adults with genetically confirmed PWS.

Main Outcome Measure

For MTP, 11-deoxycortisol > 230 nmol/L was considered sufficient. For ITT, cortisol > 500 nmol/L (Dutch, French, and Swedish patients) or > 450 nmol/L (British patients) was considered sufficient.

Results

Central adrenal insufficiency was excluded in 81 of 82 patients. Among the 645 patients whose medical files were reviewed, 200 had undergone surgery without perioperative hydrocortisone treatment. None of them had displayed any features of hypocortisolism.

Conclusions

Central adrenal insufficiency is rare (1.2%) in adults with PWS. Based on these results, we recommend against routinely prescribing hydrocortisone stress-doses in adults with PWS

Overview publication

TítuloCentral Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome
Fecha31 marzo 2020
Nombre del problemaThe Journal of Clinical Endocrinology & Metabolism
Número de problema2020 Jul 1;105(7):e2563-e2571. doi: 10.1210/clinem/dgaa168
AutoresAnna G W Rosenberg, Karlijn Pellikaan, Christine Poitou, Anthony P Goldstone, Charlotte Høybye, Tania Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Muriel Coupaye, Sjoerd A A Van Den Berg, Aart Jan Van Der Lely & Laura C G De Graaff
MTGsMTG5
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