Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases
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DOI: 10.1111/jpc.15407
Abstract: Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder characterised by adrenocorticotropic hormone (ACTH) deficiency, red hair and hyperphagic obesity. Two unrelated cases presented with hypoglycaemia due to isolated ACTH deficiency in the neonatal period. POMC… read more here.
Keywords: proopiomelanocortin deficiency; pomc deficiency; deficiency; diagnosed infancy ... See more keywords