A patient with Prader-Willi Syndrome (PWS) may develop adrenal insufficiency due to dysfunction of the hypothalamic-pituitary axis. The authors are from Medical University of Silesia in Poland.
Patient selection: Prader-Willi Syndrome
Type of adrenal insufficiency: central (CAI)
Testing: low dose tetracosactrin (Synacthen) stimulation test (LDSST), using 1 µg
CAI should be suspected if the patient shows certain clinical and laboratory findings.
Clinical signs and symptoms of CAI may include:
(1) abnormal weight gain or weight loss
(2) vomiting
(3) recurrent infections
(4) excessive fatigue
(5) muscle and joint pain
(6) headache
(7) dizziness
Laboratory findings may include:
(1) hypoglycemia
(2) hyponatremia
(3) hyperkalemia (with chronic kidney disease)
(4) anemia
(5) lymphocytosis
(6) eosinophilia
Basal morning cortisol should be assessed every 3-6 months in all patients with PWS.
Mandatory CAI exclusion: basal cortisol < 138 nmol/L.
Some perform LDSST when the basal cortisol < 250 nmol/L.
Comorbid conditions may include:
(1) hypogonadism
(2) inadequate growth hormone
(3) hyperphagia with obesity
(4) impaired body temperature regulation
(5) hypothyroidism
