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Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation

Publications / Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation

Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a hereditary defect causing hypoglycosylation of N-linked glycoproteins. It was recently suggested that patients with PMM2-CDG may have central adrenal insufficiency. We present an 18-year-old male with PMM2-CDG, whose initial screening suggested adrenal insufficiency.