Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.

Abstract excerpt

INTRODUCTION: X-linked adrenomyeloneuropathy (X-AMN) is a genetic disorder that primarily affects the adrenal cortex and the nervous system. The disease shows a wide range of phenotypic expression, age of onset, and rate of progression. PATIENT DESCRIPTION: We present a thalassemic 23-year-old man with X-AMN and multiple endocrine disorders. At age 2 years, he was diagnosed with thalassaemia intermedia, and he...

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