J. Q. presented initially at age 2 years with hypoglycaemia following a six-hour fast prior to an elective surgical procedure. Investigations demonstrated a low plasma glucose (1.6mmol/l), elevated beta Hydroxybutyrate (5.2 mmol/l), normal lactate (1.09nmol/l) and a detectable serum insulin level (2.5 mU/L). A plasma amino-acid profile was normal. The dorsum of his hands and the extensor region of his arms were noted to be pigmented, however a synacthen test at that time, indicated a normal cortisol response. Ketotic hypoglycaemia was diagnosed, and his parents were given dietary advice. However he continued to have recurrent episodes of hypoglycaemia associated with periods of fasting. At age 11, he was referred to Medical Genetics with poor coordination and delayed fine motor skills. He was noted to have a dysmorphic appearance. Chromosomal analysis revealed a normal male karyotype, and no specific diagnosis was made. He presented in May 2000 to the Metabolic unit, age 18 for investigation of recurrent hypoglycaemia and dizzy spells. On examination: BMI = 15Kg/m2, BP 90/50 mm/Hg, pigmented hands and dysmorphic features as before. A prolonged 72 hour fast was terminated after 10 hours as the patient became symptomatic, with a plasma glucose value 1.6mmol/l. A synacthen test demonstrated an absent cortisol response, and a markedly elevated ACTH value.
Adrenal autoantibodies were absent, and very long chain fatty acids were normal. The patient was commenced on both glucocorticoid and mineralcorticoid replacement. He has had no further hypoglycaemic episodes.
In conclusion:-We present a case of idiopathic Addison's disease associated with hypoglycaemia in a young man who had presented previously age 2y with hypoglycaemia and pigmentation, and a normal synacthen test. It is not clear in this case whether hypoglycaemia preceding the confirmation of Addison's disease was related to a second pathological process.
08 - 11 Apr 2002
British Endocrine Societies