Endocrine Abstracts

Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare, sometimes devastating disorder caused by-mainly inherited- mutations in the ABCD1 gene. Cerebral X-ALD can be prevented or modified if diagnosed presymptomatically. Mutation can lead to very long chain fatty acid (VLCFA) accumulation in adrenocortical cells, which can cause antibody negative primary Addison’s disease (ANPAD). There are recommendations that all males affected by ANPAD should have VLCFA analysis. W...

Introduction Lithium (Li) is an effective treatment for bipolar and schizo-affective disorders. It has a narrow therapeutic index, and produces common side effects when this is exceeded. Li causes endocrine disruption by predictable and some hitherto unclear mechanisms. We present a subject who developed multiple Li induced endocrinopathies concurrently, and was a therapeutic challenge. Case presentation and investigations Mr. DM had been on Li for 10 years and developed polyu...