Kennedy's Disease Initially Manifesting as an Endocrine Disorder

Spinal and bulbar muscular atrophy (SBMA, or Kennedy's disease) is an X-linked, late-onset neuro-endocrine disorder characterized by degeneration of motor neurons in the spinal cord and brainstem and partial androgen insensitivity. We describe the case of a 59-year-old man who presented with diabetes mellitus, hypercholesterolemia, testicular atrophy, gynecomastia, and elevated serum creatine kinase (CK) levels. He did not have a familial history of motor neuron disease or neuromuscular symptoms or physical signs. Electromyographic (EMG) examination showed evidence of widespread denervation in muscles of different segmental innervation. Genetic studies found an abnormal 43 CAG repeat in the androgen receptor gene, leading to the diagnosis of SBMA. This report highlights the fact that SBMA can present with a pure endocrine phenotype and an absence of neuromuscular complaints or physical signs.